Canonical Allele Identifier: CA2148327499

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278497C= , CM000676.2:g.77278497C=	GRCh38
NC_000014.8:g.77744840C= , CM000676.1:g.77744840C=	GRCh37
NC_000014.7:g.76814593C=	NCBI36
NG_008897.1:g.47386G= , LRG_844:g.47386G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.969G=
ENST00000556394.2:c.1585G=	ENSP00000451967.2:p.Asp529=
ENST00000682247.1:c.2033G=	ENSP00000507213.1:p.Gly678=
ENST00000682395.1:n.2508G=
ENST00000682459.1:n.1747G=
ENST00000682467.1:c.1903G=	ENSP00000508062.1:p.Asp635=
ENST00000682795.1:c.2191G=	ENSP00000507574.1:p.Asp731=
ENST00000682895.1:n.1760G=
ENST00000682955.1:n.1618G=
ENST00000683188.1:c.2305G=
ENST00000683380.1:n.1708G=
ENST00000683907.1:c.309G=	ENSP00000507754.1:n.309G=
ENST00000684259.1:n.3811G=
ENST00000684538.1:n.1423G=
ENST00000684549.1:n.1595G=
ENST00000261534.9:c.2044G= MANE Select	ENSP00000261534.4:p.Asp682=
ENST00000261534.8:c.2044G=	ENSP00000261534.4:p.Asp682=
ENST00000452340.7:n.3020G=
ENST00000554767.5:n.2830G=
ENST00000555710.1:c.405G=	ENSP00000451730.1:n.405G=
ENST00000556394.1:c.99G=
ENST00000556446.1:n.345G=
ENST00000602717.5:c.259G=	ENSP00000487704.1:p.Asp87=
NM_013382.5:c.2044G= , LRG_844t1:c.2044G=	NP_037514.2:p.Asp682=
XM_011536675.1:c.2233G=	XP_011534977.1:p.Asp745=
XM_011536676.1:c.1900G=	XP_011534978.1:p.Asp634=
XM_011536677.1:c.1774G=	XP_011534979.1:p.Asp592=
XM_011536679.1:c.1327G=	XP_011534981.1:p.Asp443=
XR_943416.1:n.2297G=
XM_011536675.2:c.2233G=	XP_011534977.1:p.Asp745=
XM_011536676.2:c.1900G=	XP_011534978.1:p.Asp634=
XM_011536677.3:c.1774G=	XP_011534979.1:p.Asp592=
XR_001750279.1:n.2330G=
XR_001750282.1:n.2983G=
XR_943416.3:n.2295G=
NM_013382.6:c.2044G=	NP_037514.2:p.Asp682=
NM_013382.7:c.2044G= MANE Select	NP_037514.2:p.Asp682=