Canonical Allele Identifier: CA390513753

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745087A>C (hg19) ; chr14:g.77278744A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278744A>C , CM000676.2:g.77278744A>C	GRCh38
NC_000014.8:g.77745087A>C , CM000676.1:g.77745087A>C	GRCh37
NC_000014.7:g.76814840A>C	NCBI36
NG_008897.1:g.47139T>G , LRG_844:g.47139T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.942T>G
ENST00000556394.2:c.1558T>G	ENSP00000451967.2:p.Ser520Ala
ENST00000682128.1:c.318T>G	ENSP00000506976.1:n.318T>G
ENST00000682247.1:c.2006T>G	ENSP00000507213.1:p.Leu669Arg
ENST00000682395.1:n.2481T>G
ENST00000682459.1:n.1720T>G
ENST00000682467.1:c.1892-236T>G	ENSP00000508062.1:n.1892-236T>G
ENST00000682615.1:n.371T>G
ENST00000682795.1:c.2164T>G	ENSP00000507574.1:p.Ser722Ala
ENST00000682895.1:n.1733T>G
ENST00000682955.1:n.1591T>G
ENST00000683095.1:c.423T>G	ENSP00000508040.1:n.423T>G
ENST00000683188.1:c.2278T>G
ENST00000683380.1:n.1681T>G
ENST00000683907.1:c.282T>G	ENSP00000507754.1:n.282T>G
ENST00000684172.1:c.393T>G	ENSP00000508391.1:n.393T>G
ENST00000684259.1:n.3784T>G
ENST00000684538.1:n.1396T>G
ENST00000684549.1:n.1568T>G
ENST00000261534.9:c.2017T>G MANE Select	ENSP00000261534.4:p.Ser673Ala
ENST00000261534.8:c.2017T>G	ENSP00000261534.4:p.Ser673Ala
ENST00000452340.7:n.2993T>G
ENST00000554767.5:n.2803T>G
ENST00000555710.1:c.378T>G	ENSP00000451730.1:n.378T>G
ENST00000556394.1:c.88-236T>G
ENST00000556446.1:n.318T>G
ENST00000602717.5:c.232T>G	ENSP00000487704.1:p.Ser78Ala
NM_013382.5:c.2017T>G , LRG_844t1:c.2017T>G	NP_037514.2:p.Ser673Ala
XM_011536675.1:c.2206T>G	XP_011534977.1:p.Ser736Ala
XM_011536676.1:c.1873T>G	XP_011534978.1:p.Ser625Ala
XM_011536677.1:c.1747T>G	XP_011534979.1:p.Ser583Ala
XM_011536679.1:c.1300T>G	XP_011534981.1:p.Ser434Ala
XR_943416.1:n.2270T>G
XM_011536675.2:c.2206T>G	XP_011534977.1:p.Ser736Ala
XM_011536676.2:c.1873T>G	XP_011534978.1:p.Ser625Ala
XM_011536677.3:c.1747T>G	XP_011534979.1:p.Ser583Ala
XR_001750279.1:n.2303T>G
XR_001750282.1:n.2956T>G
XR_943416.3:n.2268T>G
NM_013382.6:c.2017T>G	NP_037514.2:p.Ser673Ala
NM_013382.7:c.2017T>G MANE Select	NP_037514.2:p.Ser673Ala