Canonical Allele Identifier: CA390513629

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744833A>C (hg19) ; chr14:g.77278490A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278490A>C , CM000676.2:g.77278490A>C	GRCh38
NC_000014.8:g.77744833A>C , CM000676.1:g.77744833A>C	GRCh37
NC_000014.7:g.76814586A>C	NCBI36
NG_008897.1:g.47393T>G , LRG_844:g.47393T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.976T>G
ENST00000556394.2:c.1592T>G	ENSP00000451967.2:p.Leu531Arg
ENST00000682247.1:c.2040T>G	ENSP00000507213.1:p.Pro680=
ENST00000682395.1:n.2515T>G
ENST00000682459.1:n.1754T>G
ENST00000682467.1:c.1910T>G	ENSP00000508062.1:p.Leu637Arg
ENST00000682795.1:c.2198T>G	ENSP00000507574.1:p.Leu733Arg
ENST00000682895.1:n.1767T>G
ENST00000682955.1:n.1625T>G
ENST00000683188.1:c.2312T>G
ENST00000683380.1:n.1715T>G
ENST00000683907.1:c.316T>G	ENSP00000507754.1:n.316T>G
ENST00000684259.1:n.3818T>G
ENST00000684538.1:n.1430T>G
ENST00000684549.1:n.1602T>G
ENST00000261534.9:c.2051T>G MANE Select	ENSP00000261534.4:p.Leu684Arg
ENST00000261534.8:c.2051T>G	ENSP00000261534.4:p.Leu684Arg
ENST00000452340.7:n.3027T>G
ENST00000554767.5:n.2837T>G
ENST00000555710.1:c.412T>G	ENSP00000451730.1:n.412T>G
ENST00000556394.1:c.106T>G
ENST00000556446.1:n.352T>G
ENST00000602717.5:c.266T>G	ENSP00000487704.1:p.Leu89Arg
NM_013382.5:c.2051T>G , LRG_844t1:c.2051T>G	NP_037514.2:p.Leu684Arg
XM_011536675.1:c.2240T>G	XP_011534977.1:p.Leu747Arg
XM_011536676.1:c.1907T>G	XP_011534978.1:p.Leu636Arg
XM_011536677.1:c.1781T>G	XP_011534979.1:p.Leu594Arg
XM_011536679.1:c.1334T>G	XP_011534981.1:p.Leu445Arg
XR_943416.1:n.2304T>G
XM_011536675.2:c.2240T>G	XP_011534977.1:p.Leu747Arg
XM_011536676.2:c.1907T>G	XP_011534978.1:p.Leu636Arg
XM_011536677.3:c.1781T>G	XP_011534979.1:p.Leu594Arg
XR_001750279.1:n.2337T>G
XR_001750282.1:n.2990T>G
XR_943416.3:n.2302T>G
NM_013382.6:c.2051T>G	NP_037514.2:p.Leu684Arg
NM_013382.7:c.2051T>G MANE Select	NP_037514.2:p.Leu684Arg