Canonical Allele Identifier: CA2081902

Gene: MAP2

Linked Data

• ClinVar Variation Id: 252604
• ClinVar RCV Id: RCV000239245
• dbSNP Id: rs142338628
• ExAC: 2:210559148 G / T
• gnomAD v2: 2-210559148-G-T
• gnomAD v3: 2-209694424-G-T
• gnomAD v4: 2-209694424-G-T
• MyVariant Identifiers: chr2:g.210559148G>T (hg19) ; chr2:g.209694424G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.209694424G>T , CM000664.2:g.209694424G>T	GRCh38
NC_000002.11:g.210559148G>T , CM000664.1:g.210559148G>T	GRCh37
NC_000002.10:g.210267393G>T	NCBI36
NG_052836.1:g.275378G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704357.1:c.2254G>T	ENSP00000515868.1:p.Ala752Ser
ENST00000682079.1:c.2254G>T MANE Select	ENSP00000507035.1:p.Ala752Ser
ENST00000673860.1:c.2743G>T	ENSP00000501117.1:p.Ala915Ser
ENST00000199940.10:c.455-5853G>T	ENSP00000199940.6:n.455-5853G>T
ENST00000360351.8:c.2254G>T	ENSP00000353508.4:p.Ala752Ser
ENST00000361559.8:c.455-5853G>T	ENSP00000355290.4:n.455-5853G>T
ENST00000392194.5:c.455-5853G>T	ENSP00000376032.1:n.455-5853G>T
ENST00000447185.5:c.2242G>T	ENSP00000392164.1:p.Ala748Ser
ENST00000452717.1:c.233-5853G>T	ENSP00000388824.1:n.233-5853G>T
ENST00000471619.5:n.407-5853G>T
ENST00000482864.5:n.357-2118G>T
NM_001039538.1:c.455-5853G>T	NP_001034627.1:n.455-5853G>T
NM_002374.3:c.2254G>T	NP_002365.3:p.Ala752Ser
NM_031845.2:c.455-5853G>T	NP_114033.2:n.455-5853G>T
NM_031847.2:c.455-5853G>T	NP_114035.2:n.455-5853G>T
XM_005246555.1:c.2500G>T	XP_005246612.1:p.Ala834Ser
XM_005246562.1:c.2023G>T	XP_005246619.1:p.Ala675Ser
XM_005246565.1:c.1780G>T	XP_005246622.1:p.Ala594Ser
XM_005246566.1:c.1780G>T	XP_005246623.1:p.Ala594Ser
XM_006712532.1:c.2497G>T	XP_006712595.1:p.Ala833Ser
XM_011511186.1:c.2500G>T	XP_011509488.1:p.Ala834Ser
XM_011511187.1:c.2500G>T	XP_011509489.1:p.Ala834Ser
XM_011511188.1:c.2500G>T	XP_011509490.1:p.Ala834Ser
XM_011511189.1:c.2488G>T	XP_011509491.1:p.Ala830Ser
XM_011511190.1:c.2500G>T	XP_011509492.1:p.Ala834Ser
XM_011511191.1:c.2500G>T	XP_011509493.1:p.Ala834Ser
XM_011511192.1:c.2500G>T	XP_011509494.1:p.Ala834Ser
XM_011511193.1:c.2500G>T	XP_011509495.1:p.Ala834Ser
XM_011511194.1:c.2254G>T	XP_011509496.1:p.Ala752Ser
XM_011511195.1:c.2251G>T	XP_011509497.1:p.Ala751Ser
XM_011511196.1:c.2242G>T	XP_011509498.1:p.Ala748Ser
XM_011511197.1:c.2239G>T	XP_011509499.1:p.Ala747Ser
XM_011511198.1:c.2242G>T	XP_011509500.1:p.Ala748Ser
NM_001363910.1:c.2242G>T	NP_001350839.1:p.Ala748Ser
NM_001363911.1:c.2242G>T	NP_001350840.1:p.Ala748Ser
NM_001363913.1:c.455-5853G>T	NP_001350842.1:n.455-5853G>T
XM_011511195.2:c.2251G>T	XP_011509497.1:p.Ala751Ser
XM_011511196.3:c.2242G>T	XP_011509498.1:p.Ala748Ser
XM_011511197.3:c.2239G>T	XP_011509499.1:p.Ala747Ser
XM_017004112.2:c.2254G>T	XP_016859601.1:p.Ala752Ser
XM_017004113.2:c.2239G>T	XP_016859602.1:p.Ala747Ser
XM_017004114.2:c.2254G>T	XP_016859603.1:p.Ala752Ser
XM_017004116.2:c.2242G>T	XP_016859605.1:p.Ala748Ser
XM_017004118.2:c.2254G>T	XP_016859607.1:p.Ala752Ser
XM_017004119.2:c.2254G>T	XP_016859608.1:p.Ala752Ser
XM_017004120.2:c.2251G>T	XP_016859609.1:p.Ala751Ser
XM_017004121.2:c.2254G>T	XP_016859610.1:p.Ala752Ser
XM_017004122.2:c.2251G>T	XP_016859611.1:p.Ala751Ser
XM_017004124.2:c.2242G>T	XP_016859613.1:p.Ala748Ser
XM_017004125.2:c.2242G>T	XP_016859614.1:p.Ala748Ser
XM_017004126.2:c.2242G>T	XP_016859615.1:p.Ala748Ser
XM_017004127.2:c.2239G>T	XP_016859616.1:p.Ala747Ser
XM_017004128.2:c.2239G>T	XP_016859617.1:p.Ala747Ser
XM_017004129.2:c.2239G>T	XP_016859618.1:p.Ala747Ser
XM_017004130.1:c.1780G>T	XP_016859619.1:p.Ala594Ser
XM_017004131.1:c.1780G>T	XP_016859620.1:p.Ala594Ser
XM_017004132.1:c.1780G>T	XP_016859621.1:p.Ala594Ser
XM_017004133.1:c.1780G>T	XP_016859622.1:p.Ala594Ser
XM_017004134.1:c.1780G>T	XP_016859623.1:p.Ala594Ser
XM_017004136.1:c.1780G>T	XP_016859625.1:p.Ala594Ser
XM_017004137.1:c.1780G>T	XP_016859626.1:p.Ala594Ser
XM_017004138.2:c.455-5853G>T	XP_016859627.1:n.455-5853G>T
XM_024452891.1:c.2254G>T	XP_024308659.1:p.Ala752Ser
XM_024452893.1:c.2254G>T	XP_024308661.1:p.Ala752Ser
XM_024452894.1:c.2242G>T	XP_024308662.1:p.Ala748Ser
XM_024452895.1:c.2239G>T	XP_024308663.1:p.Ala747Ser
XM_024452896.1:c.2254G>T	XP_024308664.1:p.Ala752Ser
XM_024452897.1:c.2242G>T	XP_024308665.1:p.Ala748Ser
XM_024452899.1:c.2239G>T	XP_024308667.1:p.Ala747Ser
XM_024452900.1:c.2254G>T	XP_024308668.1:p.Ala752Ser
XM_024452901.1:c.2254G>T	XP_024308669.1:p.Ala752Ser
XM_024452902.1:c.2251G>T	XP_024308670.1:p.Ala751Ser
XM_024452905.1:c.2242G>T	XP_024308673.1:p.Ala748Ser
XM_024452906.1:c.2242G>T	XP_024308674.1:p.Ala748Ser
XM_024452907.1:c.2239G>T	XP_024308675.1:p.Ala747Ser
XM_024452910.1:c.455-5853G>T	XP_024308678.1:n.455-5853G>T
XM_024452911.1:c.455-5853G>T	XP_024308679.1:n.455-5853G>T
NM_001039538.2:c.455-5853G>T	NP_001034627.1:n.455-5853G>T
NM_001363910.2:c.2242G>T	NP_001350839.1:p.Ala748Ser
NM_001363911.2:c.2242G>T	NP_001350840.1:p.Ala748Ser
NM_001363913.2:c.455-5853G>T	NP_001350842.1:n.455-5853G>T
NM_001375474.1:c.455-5853G>T	NP_001362403.1:n.455-5853G>T
NM_001375493.1:c.455-5853G>T	NP_001362422.1:n.455-5853G>T
NM_001375494.1:c.455-5853G>T	NP_001362423.1:n.455-5853G>T
NM_001375495.1:c.455-2118G>T	NP_001362424.1:n.455-2118G>T
NM_001375496.1:c.455-5856G>T	NP_001362425.1:n.455-5856G>T
NM_001375497.1:c.452-5853G>T	NP_001362426.1:n.452-5853G>T
NM_001375498.1:c.452-2118G>T	NP_001362427.1:n.452-2118G>T
NM_001375499.1:c.455-5853G>T	NP_001362428.1:n.455-5853G>T
NM_001375500.1:c.2242G>T	NP_001362429.1:p.Ala748Ser
NM_001375501.1:c.2500G>T	NP_001362430.1:p.Ala834Ser
NM_001375502.1:c.2251G>T	NP_001362431.1:p.Ala751Ser
NM_001375503.1:c.2485G>T	NP_001362432.1:p.Ala829Ser
NM_001375504.1:c.2254G>T	NP_001362433.1:p.Ala752Ser
NM_001375505.1:c.2254G>T MANE Select	NP_001362434.1:p.Ala752Ser
NM_001375506.1:c.2254G>T	NP_001362435.1:p.Ala752Ser
NM_001375507.1:c.2242G>T	NP_001362436.1:p.Ala748Ser
NM_001375508.1:c.455-5853G>T	NP_001362437.1:n.455-5853G>T
NM_001375509.1:c.544+1698G>T	NP_001362438.1:n.544+1698G>T
NM_001375510.1:c.455-2118G>T	NP_001362439.1:n.455-2118G>T
NM_001375526.1:c.2254G>T	NP_001362455.1:p.Ala752Ser
NM_001375527.1:c.2254G>T	NP_001362456.1:p.Ala752Ser
NM_001375528.1:c.2242G>T	NP_001362457.1:p.Ala748Ser
NM_001375529.1:c.452-5853G>T	NP_001362458.1:n.452-5853G>T
NM_001375530.1:c.455-5856G>T	NP_001362459.1:n.455-5856G>T
NM_001375531.1:c.2500G>T	NP_001362460.1:p.Ala834Ser
NM_001375532.1:c.455-5856G>T	NP_001362461.1:n.455-5856G>T
NM_001375533.1:c.452-5853G>T	NP_001362462.1:n.452-5853G>T
NM_001375534.1:c.2254G>T	NP_001362463.1:p.Ala752Ser
NM_001375535.1:c.697+3576G>T	NP_001362464.1:n.697+3576G>T
NM_001375536.1:c.455-2118G>T	NP_001362465.1:n.455-2118G>T
NM_001375537.1:c.2500G>T	NP_001362466.1:p.Ala834Ser
NM_001375538.1:c.455-2118G>T	NP_001362467.1:n.455-2118G>T
NM_001375539.1:c.2488G>T	NP_001362468.1:p.Ala830Ser
NM_001375540.1:c.452-2118G>T	NP_001362469.1:n.452-2118G>T
NM_001375541.1:c.455-2493G>T	NP_001362470.1:n.455-2493G>T
NM_001375542.1:c.452-5856G>T	NP_001362471.1:n.452-5856G>T
NM_001375543.1:c.2254G>T	NP_001362472.1:p.Ala752Ser
NM_001375544.1:c.2251G>T	NP_001362473.1:p.Ala751Ser
NM_001375545.1:c.2242G>T	NP_001362474.1:p.Ala748Ser
NM_001375546.1:c.2242G>T	NP_001362475.1:p.Ala748Ser
NM_001375548.1:c.2239G>T	NP_001362477.1:p.Ala747Ser
NM_001375551.1:c.1780G>T	NP_001362480.1:p.Ala594Ser
NM_001375552.1:c.1780G>T	NP_001362481.1:p.Ala594Ser
NM_001375553.1:c.-17-2118G>T	NP_001362482.1:n.-17-2118G>T
NM_001375554.1:c.-17-2118G>T	NP_001362483.1:n.-17-2118G>T
NM_001375555.1:c.1780G>T	NP_001362484.1:p.Ala594Ser
NM_001375556.1:c.1780G>T	NP_001362485.1:p.Ala594Ser
NM_001375557.1:c.1780G>T	NP_001362486.1:p.Ala594Ser
NM_001375558.1:c.1780G>T	NP_001362487.1:p.Ala594Ser
NM_001375559.1:c.1780G>T	NP_001362488.1:p.Ala594Ser
NM_001375583.1:c.455-5853G>T	NP_001362512.1:n.455-5853G>T
NM_002374.4:c.2254G>T	NP_002365.3:p.Ala752Ser
NM_031845.3:c.455-5853G>T	NP_114033.2:n.455-5853G>T
NM_031847.3:c.455-5853G>T	NP_114035.2:n.455-5853G>T
NR_164694.1:n.376-5871G>T
NR_164695.1:n.376-5853G>T
NR_164696.1:n.373-5853G>T
NR_164697.1:n.376-5853G>T
NR_164698.1:n.376-5853G>T
NR_164699.1:n.376-11156G>T