Canonical Allele Identifier: CA390513906

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278776-T-C
• MyVariant Identifiers: chr14:g.77745119T>C (hg19) ; chr14:g.77278776T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.910A>G
ENST00000556394.2:c.1526A>G	ENSP00000451967.2:p.Tyr509Cys
ENST00000682128.1:c.286A>G	ENSP00000506976.1:n.286A>G
ENST00000682247.1:c.1974A>G	ENSP00000507213.1:p.Leu658=
ENST00000682395.1:n.2449A>G
ENST00000682459.1:n.1688A>G
ENST00000682467.1:c.1892-268A>G	ENSP00000508062.1:n.1892-268A>G
ENST00000682615.1:n.339A>G
ENST00000682795.1:c.2132A>G	ENSP00000507574.1:p.Tyr711Cys
ENST00000682895.1:n.1701A>G
ENST00000682955.1:n.1559A>G
ENST00000683095.1:c.391A>G	ENSP00000508040.1:n.391A>G
ENST00000683188.1:c.2246A>G
ENST00000683380.1:n.1649A>G
ENST00000683907.1:c.250A>G	ENSP00000507754.1:n.250A>G
ENST00000684172.1:c.361A>G	ENSP00000508391.1:n.361A>G
ENST00000684259.1:n.3752A>G
ENST00000684538.1:n.1364A>G
ENST00000684549.1:n.1536A>G
ENST00000261534.9:c.1985A>G MANE Select	ENSP00000261534.4:p.Tyr662Cys
ENST00000261534.8:c.1985A>G	ENSP00000261534.4:p.Tyr662Cys
ENST00000452340.7:n.2961A>G
ENST00000554767.5:n.2771A>G
ENST00000555710.1:c.346A>G	ENSP00000451730.1:n.346A>G
ENST00000556171.1:c.577A>G
ENST00000556394.1:c.88-268A>G
ENST00000556446.1:n.286A>G
ENST00000602717.5:c.200A>G	ENSP00000487704.1:p.Tyr67Cys
NM_013382.5:c.1985A>G , LRG_844t1:c.1985A>G	NP_037514.2:p.Tyr662Cys
XM_011536675.1:c.2174A>G	XP_011534977.1:p.Tyr725Cys
XM_011536676.1:c.1841A>G	XP_011534978.1:p.Tyr614Cys
XM_011536677.1:c.1715A>G	XP_011534979.1:p.Tyr572Cys
XM_011536679.1:c.1268A>G	XP_011534981.1:p.Tyr423Cys
XR_943416.1:n.2238A>G
XM_011536675.2:c.2174A>G	XP_011534977.1:p.Tyr725Cys
XM_011536676.2:c.1841A>G	XP_011534978.1:p.Tyr614Cys
XM_011536677.3:c.1715A>G	XP_011534979.1:p.Tyr572Cys
XR_001750279.1:n.2271A>G
XR_001750282.1:n.2924A>G
XR_943416.3:n.2236A>G
NM_013382.6:c.1985A>G	NP_037514.2:p.Tyr662Cys
NM_013382.7:c.1985A>G MANE Select	NP_037514.2:p.Tyr662Cys