Canonical Allele Identifier: CA390513902

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745118G>T (hg19) ; chr14:g.77278775G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278775G>T , CM000676.2:g.77278775G>T	GRCh38
NC_000014.8:g.77745118G>T , CM000676.1:g.77745118G>T	GRCh37
NC_000014.7:g.76814871G>T	NCBI36
NG_008897.1:g.47108C>A , LRG_844:g.47108C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.911C>A
ENST00000556394.2:c.1527C>A	ENSP00000451967.2:p.Tyr509Ter
ENST00000682128.1:c.287C>A	ENSP00000506976.1:n.287C>A
ENST00000682247.1:c.1975C>A	ENSP00000507213.1:p.Leu659Ile
ENST00000682395.1:n.2450C>A
ENST00000682459.1:n.1689C>A
ENST00000682467.1:c.1892-267C>A	ENSP00000508062.1:n.1892-267C>A
ENST00000682615.1:n.340C>A
ENST00000682795.1:c.2133C>A	ENSP00000507574.1:p.Tyr711Ter
ENST00000682895.1:n.1702C>A
ENST00000682955.1:n.1560C>A
ENST00000683095.1:c.392C>A	ENSP00000508040.1:n.392C>A
ENST00000683188.1:c.2247C>A
ENST00000683380.1:n.1650C>A
ENST00000683907.1:c.251C>A	ENSP00000507754.1:n.251C>A
ENST00000684172.1:c.362C>A	ENSP00000508391.1:n.362C>A
ENST00000684259.1:n.3753C>A
ENST00000684538.1:n.1365C>A
ENST00000684549.1:n.1537C>A
ENST00000261534.9:c.1986C>A MANE Select	ENSP00000261534.4:p.Tyr662Ter
ENST00000261534.8:c.1986C>A	ENSP00000261534.4:p.Tyr662Ter
ENST00000452340.7:n.2962C>A
ENST00000554767.5:n.2772C>A
ENST00000555710.1:c.347C>A	ENSP00000451730.1:n.347C>A
ENST00000556171.1:c.578C>A
ENST00000556394.1:c.88-267C>A
ENST00000556446.1:n.287C>A
ENST00000602717.5:c.201C>A	ENSP00000487704.1:p.Tyr67Ter
NM_013382.5:c.1986C>A , LRG_844t1:c.1986C>A	NP_037514.2:p.Tyr662Ter
XM_011536675.1:c.2175C>A	XP_011534977.1:p.Tyr725Ter
XM_011536676.1:c.1842C>A	XP_011534978.1:p.Tyr614Ter
XM_011536677.1:c.1716C>A	XP_011534979.1:p.Tyr572Ter
XM_011536679.1:c.1269C>A	XP_011534981.1:p.Tyr423Ter
XR_943416.1:n.2239C>A
XM_011536675.2:c.2175C>A	XP_011534977.1:p.Tyr725Ter
XM_011536676.2:c.1842C>A	XP_011534978.1:p.Tyr614Ter
XM_011536677.3:c.1716C>A	XP_011534979.1:p.Tyr572Ter
XR_001750279.1:n.2272C>A
XR_001750282.1:n.2925C>A
XR_943416.3:n.2237C>A
NM_013382.6:c.1986C>A	NP_037514.2:p.Tyr662Ter
NM_013382.7:c.1986C>A MANE Select	NP_037514.2:p.Tyr662Ter