Canonical Allele Identifier: CA7285554

Gene: POMT2

Linked Data

• dbSNP Id: rs764251403
• ExAC: 14:77744818 G / T
• gnomAD v2: 14-77744818-G-T
• gnomAD v4: 14-77278475-G-T
• MyVariant Identifiers: chr14:g.77744818G>T (hg19) ; chr14:g.77278475G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278475G>T , CM000676.2:g.77278475G>T	GRCh38
NC_000014.8:g.77744818G>T , CM000676.1:g.77744818G>T	GRCh37
NC_000014.7:g.76814571G>T	NCBI36
NG_008897.1:g.47408C>A , LRG_844:g.47408C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.991C>A
ENST00000556394.2:c.1607C>A	ENSP00000451967.2:p.Ala536Asp
ENST00000682247.1:c.2055C>A	ENSP00000507213.1:p.Cys685Ter
ENST00000682395.1:n.2530C>A
ENST00000682459.1:n.1769C>A
ENST00000682467.1:c.1925C>A	ENSP00000508062.1:p.Ala642Asp
ENST00000682795.1:c.2213C>A	ENSP00000507574.1:p.Ala738Asp
ENST00000682895.1:n.1782C>A
ENST00000682955.1:n.1640C>A
ENST00000683188.1:c.2327C>A
ENST00000683380.1:n.1730C>A
ENST00000683907.1:c.331C>A	ENSP00000507754.1:n.331C>A
ENST00000684259.1:n.3833C>A
ENST00000684538.1:n.1445C>A
ENST00000684549.1:n.1617C>A
ENST00000261534.9:c.2066C>A MANE Select	ENSP00000261534.4:p.Ala689Asp
ENST00000261534.8:c.2066C>A	ENSP00000261534.4:p.Ala689Asp
ENST00000452340.7:n.3042C>A
ENST00000554767.5:n.2852C>A
ENST00000555710.1:c.427C>A	ENSP00000451730.1:n.427C>A
ENST00000556394.1:c.121C>A
ENST00000556446.1:n.367C>A
ENST00000602717.5:c.281C>A	ENSP00000487704.1:p.Ala94Asp
NM_013382.5:c.2066C>A , LRG_844t1:c.2066C>A	NP_037514.2:p.Ala689Asp
XM_011536675.1:c.2255C>A	XP_011534977.1:p.Ala752Asp
XM_011536676.1:c.1922C>A	XP_011534978.1:p.Ala641Asp
XM_011536677.1:c.1796C>A	XP_011534979.1:p.Ala599Asp
XM_011536679.1:c.1349C>A	XP_011534981.1:p.Ala450Asp
XR_943416.1:n.2319C>A
XM_011536675.2:c.2255C>A	XP_011534977.1:p.Ala752Asp
XM_011536676.2:c.1922C>A	XP_011534978.1:p.Ala641Asp
XM_011536677.3:c.1796C>A	XP_011534979.1:p.Ala599Asp
XR_001750279.1:n.2352C>A
XR_001750282.1:n.3005C>A
XR_943416.3:n.2317C>A
NM_013382.6:c.2066C>A	NP_037514.2:p.Ala689Asp
NM_013382.7:c.2066C>A MANE Select	NP_037514.2:p.Ala689Asp