Canonical Allele Identifier: CA487509540

Gene: POMT2

Linked Data

• dbSNP Id: rs3209079
• gnomAD v2: 14-77745193-A-G
• gnomAD v4: 14-77278850-A-G
• MyVariant Identifiers: chr14:g.77745193A>G (hg19) ; chr14:g.77278850A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278850A>G , CM000676.2:g.77278850A>G	GRCh38
NC_000014.8:g.77745193A>G , CM000676.1:g.77745193A>G	GRCh37
NC_000014.7:g.76814946A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.836T>C
ENST00000556394.2:c.1452T>C	ENSP00000451967.2:p.Leu484=
ENST00000682128.1:c.212T>C	ENSP00000506976.1:n.212T>C
ENST00000682247.1:c.1900T>C	ENSP00000507213.1:p.Ser634Pro
ENST00000682395.1:n.2375T>C
ENST00000682459.1:n.1614T>C
ENST00000682467.1:c.1892-342T>C	ENSP00000508062.1:n.1892-342T>C
ENST00000682615.1:n.265T>C
ENST00000682795.1:c.2058T>C	ENSP00000507574.1:p.Leu686=
ENST00000682895.1:n.1627T>C
ENST00000682955.1:n.1485T>C
ENST00000683095.1:c.317T>C	ENSP00000508040.1:n.317T>C
ENST00000683188.1:c.2172T>C
ENST00000683380.1:n.1575T>C
ENST00000683828.1:c.1620T>C
ENST00000683907.1:c.176T>C	ENSP00000507754.1:p.Phe59Ser
ENST00000684172.1:c.287T>C	ENSP00000508391.1:n.287T>C
ENST00000684259.1:n.3678T>C
ENST00000684538.1:n.1290T>C
ENST00000684549.1:n.1462T>C
ENST00000261534.9:c.1911T>C MANE Select	ENSP00000261534.4:p.Leu637=
ENST00000261534.8:c.1911T>C	ENSP00000261534.4:p.Leu637=
ENST00000452340.7:n.2887T>C
ENST00000554767.5:n.2697T>C
ENST00000555134.1:n.836T>C
ENST00000555710.1:c.272T>C	ENSP00000451730.1:n.272T>C
ENST00000556171.1:c.503T>C
ENST00000556394.1:c.88-342T>C
ENST00000556446.1:n.212T>C
ENST00000602717.5:c.126T>C	ENSP00000487704.1:p.Leu42=
XM_011536675.1:c.2100T>C	XP_011534977.1:p.Leu700=
XM_011536676.1:c.1767T>C	XP_011534978.1:p.Leu589=
XM_011536677.1:c.1641T>C	XP_011534979.1:p.Leu547=
XM_011536679.1:c.1194T>C	XP_011534981.1:p.Leu398=
XR_943416.1:n.2164T>C
XM_011536675.2:c.2100T>C	XP_011534977.1:p.Leu700=
XM_011536676.2:c.1767T>C	XP_011534978.1:p.Leu589=
XM_011536677.3:c.1641T>C	XP_011534979.1:p.Leu547=
XR_001750279.1:n.2197T>C
XR_001750282.1:n.2850T>C
XR_943416.3:n.2162T>C
NM_013382.6:c.1911T>C	NP_037514.2:p.Leu637=
NM_013382.7:c.1911T>C MANE Select	NP_037514.2:p.Leu637=