Canonical Allele Identifier: CA390513904

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745119T>A (hg19) ; chr14:g.77278776T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278776T>A , CM000676.2:g.77278776T>A	GRCh38
NC_000014.8:g.77745119T>A , CM000676.1:g.77745119T>A	GRCh37
NC_000014.7:g.76814872T>A	NCBI36
NG_008897.1:g.47107A>T , LRG_844:g.47107A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.910A>T
ENST00000556394.2:c.1526A>T	ENSP00000451967.2:p.Tyr509Phe
ENST00000682128.1:c.286A>T	ENSP00000506976.1:n.286A>T
ENST00000682247.1:c.1974A>T	ENSP00000507213.1:p.Leu658=
ENST00000682395.1:n.2449A>T
ENST00000682459.1:n.1688A>T
ENST00000682467.1:c.1892-268A>T	ENSP00000508062.1:n.1892-268A>T
ENST00000682615.1:n.339A>T
ENST00000682795.1:c.2132A>T	ENSP00000507574.1:p.Tyr711Phe
ENST00000682895.1:n.1701A>T
ENST00000682955.1:n.1559A>T
ENST00000683095.1:c.391A>T	ENSP00000508040.1:n.391A>T
ENST00000683188.1:c.2246A>T
ENST00000683380.1:n.1649A>T
ENST00000683907.1:c.250A>T	ENSP00000507754.1:n.250A>T
ENST00000684172.1:c.361A>T	ENSP00000508391.1:n.361A>T
ENST00000684259.1:n.3752A>T
ENST00000684538.1:n.1364A>T
ENST00000684549.1:n.1536A>T
ENST00000261534.9:c.1985A>T MANE Select	ENSP00000261534.4:p.Tyr662Phe
ENST00000261534.8:c.1985A>T	ENSP00000261534.4:p.Tyr662Phe
ENST00000452340.7:n.2961A>T
ENST00000554767.5:n.2771A>T
ENST00000555710.1:c.346A>T	ENSP00000451730.1:n.346A>T
ENST00000556171.1:c.577A>T
ENST00000556394.1:c.88-268A>T
ENST00000556446.1:n.286A>T
ENST00000602717.5:c.200A>T	ENSP00000487704.1:p.Tyr67Phe
NM_013382.5:c.1985A>T , LRG_844t1:c.1985A>T	NP_037514.2:p.Tyr662Phe
XM_011536675.1:c.2174A>T	XP_011534977.1:p.Tyr725Phe
XM_011536676.1:c.1841A>T	XP_011534978.1:p.Tyr614Phe
XM_011536677.1:c.1715A>T	XP_011534979.1:p.Tyr572Phe
XM_011536679.1:c.1268A>T	XP_011534981.1:p.Tyr423Phe
XR_943416.1:n.2238A>T
XM_011536675.2:c.2174A>T	XP_011534977.1:p.Tyr725Phe
XM_011536676.2:c.1841A>T	XP_011534978.1:p.Tyr614Phe
XM_011536677.3:c.1715A>T	XP_011534979.1:p.Tyr572Phe
XR_001750279.1:n.2271A>T
XR_001750282.1:n.2924A>T
XR_943416.3:n.2236A>T
NM_013382.6:c.1985A>T	NP_037514.2:p.Tyr662Phe
NM_013382.7:c.1985A>T MANE Select	NP_037514.2:p.Tyr662Phe