Canonical Allele Identifier: CA390513658

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744839T>A (hg19) ; chr14:g.77278496T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278496T>A , CM000676.2:g.77278496T>A	GRCh38
NC_000014.8:g.77744839T>A , CM000676.1:g.77744839T>A	GRCh37
NC_000014.7:g.76814592T>A	NCBI36
NG_008897.1:g.47387A>T , LRG_844:g.47387A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.970A>T
ENST00000556394.2:c.1586A>T	ENSP00000451967.2:p.Asp529Val
ENST00000682247.1:c.2034A>T	ENSP00000507213.1:p.Gly678=
ENST00000682395.1:n.2509A>T
ENST00000682459.1:n.1748A>T
ENST00000682467.1:c.1904A>T	ENSP00000508062.1:p.Asp635Val
ENST00000682795.1:c.2192A>T	ENSP00000507574.1:p.Asp731Val
ENST00000682895.1:n.1761A>T
ENST00000682955.1:n.1619A>T
ENST00000683188.1:c.2306A>T
ENST00000683380.1:n.1709A>T
ENST00000683907.1:c.310A>T	ENSP00000507754.1:n.310A>T
ENST00000684259.1:n.3812A>T
ENST00000684538.1:n.1424A>T
ENST00000684549.1:n.1596A>T
ENST00000261534.9:c.2045A>T MANE Select	ENSP00000261534.4:p.Asp682Val
ENST00000261534.8:c.2045A>T	ENSP00000261534.4:p.Asp682Val
ENST00000452340.7:n.3021A>T
ENST00000554767.5:n.2831A>T
ENST00000555710.1:c.406A>T	ENSP00000451730.1:n.406A>T
ENST00000556394.1:c.100A>T
ENST00000556446.1:n.346A>T
ENST00000602717.5:c.260A>T	ENSP00000487704.1:p.Asp87Val
NM_013382.5:c.2045A>T , LRG_844t1:c.2045A>T	NP_037514.2:p.Asp682Val
XM_011536675.1:c.2234A>T	XP_011534977.1:p.Asp745Val
XM_011536676.1:c.1901A>T	XP_011534978.1:p.Asp634Val
XM_011536677.1:c.1775A>T	XP_011534979.1:p.Asp592Val
XM_011536679.1:c.1328A>T	XP_011534981.1:p.Asp443Val
XR_943416.1:n.2298A>T
XM_011536675.2:c.2234A>T	XP_011534977.1:p.Asp745Val
XM_011536676.2:c.1901A>T	XP_011534978.1:p.Asp634Val
XM_011536677.3:c.1775A>T	XP_011534979.1:p.Asp592Val
XR_001750279.1:n.2331A>T
XR_001750282.1:n.2984A>T
XR_943416.3:n.2296A>T
NM_013382.6:c.2045A>T	NP_037514.2:p.Asp682Val
NM_013382.7:c.2045A>T MANE Select	NP_037514.2:p.Asp682Val