Canonical Allele Identifier: CA2148315599

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278883G= , CM000676.2:g.77278883G=	GRCh38
NC_000014.8:g.77745226G= , CM000676.1:g.77745226G=	GRCh37
NC_000014.7:g.76814979G=	NCBI36
NG_008897.1:g.47000C= , LRG_844:g.47000C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.817-14C=
ENST00000556394.2:c.1433-14C=	ENSP00000451967.2:n.1433-14C=
ENST00000682128.1:c.193-14C=	ENSP00000506976.1:n.193-14C=
ENST00000682247.1:c.1892-25C=	ENSP00000507213.1:n.1892-25C=
ENST00000682395.1:n.2356-14C=
ENST00000682459.1:n.1595-14C=
ENST00000682467.1:c.1892-375C=	ENSP00000508062.1:n.1892-375C=
ENST00000682615.1:n.246-14C=
ENST00000682795.1:c.2039-14C=	ENSP00000507574.1:n.2039-14C=
ENST00000682895.1:n.1608-14C=
ENST00000682955.1:n.1466-14C=
ENST00000683095.1:c.298-14C=	ENSP00000508040.1:n.298-14C=
ENST00000683188.1:c.2153-14C=
ENST00000683380.1:n.1556-14C=
ENST00000683828.1:c.1601-14C=
ENST00000683907.1:c.157-14C=	ENSP00000507754.1:n.157-14C=
ENST00000684172.1:c.268-14C=	ENSP00000508391.1:n.268-14C=
ENST00000684259.1:n.3645C=
ENST00000684538.1:n.1257C=
ENST00000684549.1:n.1443-14C=
ENST00000261534.9:c.1892-14C= MANE Select	ENSP00000261534.4:n.1892-14C=
ENST00000261534.8:c.1892-14C=	ENSP00000261534.4:n.1892-14C=
ENST00000452340.7:n.2854C=
ENST00000554767.5:n.2678-14C=
ENST00000555134.1:n.817-14C=
ENST00000555710.1:c.239C=	ENSP00000451730.1:n.239C=
ENST00000556171.1:c.484-14C=
ENST00000556394.1:c.88-375C=
ENST00000556446.1:n.179C=
ENST00000602717.5:c.107-14C=	ENSP00000487704.1:n.107-14C=
NM_013382.5:c.1892-14C= , LRG_844t1:c.1892-14C=	NP_037514.2:n.1892-14C=
XM_011536675.1:c.2081-14C=	XP_011534977.1:n.2081-14C=
XM_011536676.1:c.1748-14C=	XP_011534978.1:n.1748-14C=
XM_011536677.1:c.1622-14C=	XP_011534979.1:n.1622-14C=
XM_011536678.1:c.*615C=	XP_011534980.1:n.*615C=
XM_011536679.1:c.1175-14C=	XP_011534981.1:n.1175-14C=
XR_943416.1:n.2145-14C=
XM_011536675.2:c.2081-14C=	XP_011534977.1:n.2081-14C=
XM_011536676.2:c.1748-14C=	XP_011534978.1:n.1748-14C=
XM_011536677.3:c.1622-14C=	XP_011534979.1:n.1622-14C=
XR_001750279.1:n.2178-14C=
XR_001750282.1:n.2831-14C=
XR_943416.3:n.2143-14C=
NM_013382.6:c.1892-14C=	NP_037514.2:n.1892-14C=
NM_013382.7:c.1892-14C= MANE Select	NP_037514.2:n.1892-14C=