Canonical Allele Identifier: CA390513578

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278475-G-A
• MyVariant Identifiers: chr14:g.77744818G>A (hg19) ; chr14:g.77278475G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.991C>T
ENST00000556394.2:c.1607C>T	ENSP00000451967.2:p.Ala536Val
ENST00000682247.1:c.2055C>T	ENSP00000507213.1:p.Cys685=
ENST00000682395.1:n.2530C>T
ENST00000682459.1:n.1769C>T
ENST00000682467.1:c.1925C>T	ENSP00000508062.1:p.Ala642Val
ENST00000682795.1:c.2213C>T	ENSP00000507574.1:p.Ala738Val
ENST00000682895.1:n.1782C>T
ENST00000682955.1:n.1640C>T
ENST00000683188.1:c.2327C>T
ENST00000683380.1:n.1730C>T
ENST00000683907.1:c.331C>T	ENSP00000507754.1:n.331C>T
ENST00000684259.1:n.3833C>T
ENST00000684538.1:n.1445C>T
ENST00000684549.1:n.1617C>T
ENST00000261534.9:c.2066C>T MANE Select	ENSP00000261534.4:p.Ala689Val
ENST00000261534.8:c.2066C>T	ENSP00000261534.4:p.Ala689Val
ENST00000452340.7:n.3042C>T
ENST00000554767.5:n.2852C>T
ENST00000555710.1:c.427C>T	ENSP00000451730.1:n.427C>T
ENST00000556394.1:c.121C>T
ENST00000556446.1:n.367C>T
ENST00000602717.5:c.281C>T	ENSP00000487704.1:p.Ala94Val
NM_013382.5:c.2066C>T , LRG_844t1:c.2066C>T	NP_037514.2:p.Ala689Val
XM_011536675.1:c.2255C>T	XP_011534977.1:p.Ala752Val
XM_011536676.1:c.1922C>T	XP_011534978.1:p.Ala641Val
XM_011536677.1:c.1796C>T	XP_011534979.1:p.Ala599Val
XM_011536679.1:c.1349C>T	XP_011534981.1:p.Ala450Val
XR_943416.1:n.2319C>T
XM_011536675.2:c.2255C>T	XP_011534977.1:p.Ala752Val
XM_011536676.2:c.1922C>T	XP_011534978.1:p.Ala641Val
XM_011536677.3:c.1796C>T	XP_011534979.1:p.Ala599Val
XR_001750279.1:n.2352C>T
XR_001750282.1:n.3005C>T
XR_943416.3:n.2317C>T
NM_013382.6:c.2066C>T	NP_037514.2:p.Ala689Val
NM_013382.7:c.2066C>T MANE Select	NP_037514.2:p.Ala689Val