Canonical Allele Identifier: CA390514003

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745146G>C (hg19) ; chr14:g.77278803G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278803G>C , CM000676.2:g.77278803G>C	GRCh38
NC_000014.8:g.77745146G>C , CM000676.1:g.77745146G>C	GRCh37
NC_000014.7:g.76814899G>C	NCBI36
NG_008897.1:g.47080C>G , LRG_844:g.47080C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.883C>G
ENST00000556394.2:c.1499C>G	ENSP00000451967.2:p.Pro500Arg
ENST00000682128.1:c.259C>G	ENSP00000506976.1:n.259C>G
ENST00000682247.1:c.1947C>G	ENSP00000507213.1:p.Pro649=
ENST00000682395.1:n.2422C>G
ENST00000682459.1:n.1661C>G
ENST00000682467.1:c.1892-295C>G	ENSP00000508062.1:n.1892-295C>G
ENST00000682615.1:n.312C>G
ENST00000682795.1:c.2105C>G	ENSP00000507574.1:p.Pro702Arg
ENST00000682895.1:n.1674C>G
ENST00000682955.1:n.1532C>G
ENST00000683095.1:c.364C>G	ENSP00000508040.1:n.364C>G
ENST00000683188.1:c.2219C>G
ENST00000683380.1:n.1622C>G
ENST00000683828.1:c.1667C>G
ENST00000683907.1:c.223C>G	ENSP00000507754.1:p.Arg75Gly
ENST00000684172.1:c.334C>G	ENSP00000508391.1:n.334C>G
ENST00000684259.1:n.3725C>G
ENST00000684538.1:n.1337C>G
ENST00000684549.1:n.1509C>G
ENST00000261534.9:c.1958C>G MANE Select	ENSP00000261534.4:p.Pro653Arg
ENST00000261534.8:c.1958C>G	ENSP00000261534.4:p.Pro653Arg
ENST00000452340.7:n.2934C>G
ENST00000554767.5:n.2744C>G
ENST00000555710.1:c.319C>G	ENSP00000451730.1:n.319C>G
ENST00000556171.1:c.550C>G
ENST00000556394.1:c.88-295C>G
ENST00000556446.1:n.259C>G
ENST00000602717.5:c.173C>G	ENSP00000487704.1:p.Pro58Arg
NM_013382.5:c.1958C>G , LRG_844t1:c.1958C>G	NP_037514.2:p.Pro653Arg
XM_011536675.1:c.2147C>G	XP_011534977.1:p.Pro716Arg
XM_011536676.1:c.1814C>G	XP_011534978.1:p.Pro605Arg
XM_011536677.1:c.1688C>G	XP_011534979.1:p.Pro563Arg
XM_011536679.1:c.1241C>G	XP_011534981.1:p.Pro414Arg
XR_943416.1:n.2211C>G
XM_011536675.2:c.2147C>G	XP_011534977.1:p.Pro716Arg
XM_011536676.2:c.1814C>G	XP_011534978.1:p.Pro605Arg
XM_011536677.3:c.1688C>G	XP_011534979.1:p.Pro563Arg
XR_001750279.1:n.2244C>G
XR_001750282.1:n.2897C>G
XR_943416.3:n.2209C>G
NM_013382.6:c.1958C>G	NP_037514.2:p.Pro653Arg
NM_013382.7:c.1958C>G MANE Select	NP_037514.2:p.Pro653Arg