Canonical Allele Identifier: CA381676477

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319459T>A (hg19) ; chr11:g.70473354T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473354T>A , CM000673.2:g.70473354T>A	GRCh38
NC_000011.9:g.70319459T>A , CM000673.1:g.70319459T>A	GRCh37
NC_000011.8:g.69997107T>A	NCBI36
NG_042866.1:g.656443A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3298A>T	ENSP00000345193.7:p.Thr1100Ser
ENST00000412252.6:c.843A>T	ENSP00000414876.2:n.843A>T
ENST00000601538.6:c.5065A>T MANE Select	ENSP00000469689.2:p.Thr1689Ser
ENST00000654939.1:c.2574A>T
ENST00000656230.1:c.3928A>T	ENSP00000499561.1:p.Thr1310Ser
ENST00000659264.1:c.3355A>T	ENSP00000499270.1:p.Thr1119Ser
ENST00000338508.8:c.3301A>T	ENSP00000345193.6:p.Thr1101Ser
ENST00000357171.7:c.*69A>T	ENSP00000349694.4:n.*69A>T
ENST00000409161.5:c.3277A>T	ENSP00000386491.1:p.Thr1093Ser
ENST00000412252.5:c.841A>T
ENST00000423696.6:c.3928A>T	ENSP00000394536.2:p.Thr1310Ser
ENST00000424924.5:c.2902A>T	ENSP00000402944.1:p.Thr968Ser
ENST00000449833.6:c.3301A>T	ENSP00000399423.3:p.Thr1101Ser
ENST00000601538.5:c.5065A>T	ENSP00000469689.2:p.Thr1689Ser
ENST00000606715.3:n.1817A>T
NM_012309.4:c.5065A>T	NP_036441.2:p.Thr1689Ser
NM_133266.4:c.3301A>T	NP_573573.2:p.Thr1101Ser
NR_110766.1:n.919A>T
XM_005277930.2:c.5065A>T	XP_005277987.1:p.Thr1689Ser
XM_005277932.2:c.3928A>T	XP_005277989.1:p.Thr1310Ser
XM_006718478.2:c.5035A>T	XP_006718541.1:p.Thr1679Ser
XM_011544854.1:c.5077A>T	XP_011543156.1:p.Thr1693Ser
XM_011544855.1:c.5056A>T	XP_011543157.1:p.Thr1686Ser
XM_011544856.1:c.5050A>T	XP_011543158.1:p.Thr1684Ser
XM_011544857.1:c.5029A>T	XP_011543159.1:p.Thr1677Ser
XM_011544859.1:c.3940A>T	XP_011543161.1:p.Thr1314Ser
XM_005277932.3:c.3928A>T	XP_005277989.1:p.Thr1310Ser
XM_017017387.1:c.5065A>T	XP_016872876.1:p.Thr1689Ser
XM_017017388.1:c.5065A>T	XP_016872877.1:p.Thr1689Ser
XM_017017389.1:c.5038A>T	XP_016872878.1:p.Thr1680Ser
XM_017017390.1:c.3355A>T	XP_016872879.1:p.Thr1119Ser
NM_133266.5:c.3301A>T	NP_573573.2:p.Thr1101Ser
NR_110766.2:n.920A>T
NM_001379226.1:c.3928A>T	NP_001366155.1:p.Thr1310Ser
NM_012309.5:c.5065A>T MANE Select	NP_036441.2:p.Thr1689Ser