Canonical Allele Identifier: CA390513735

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278739-G-T
• MyVariant Identifiers: chr14:g.77745082G>T (hg19) ; chr14:g.77278739G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278739G>T , CM000676.2:g.77278739G>T	GRCh38
NC_000014.8:g.77745082G>T , CM000676.1:g.77745082G>T	GRCh37
NC_000014.7:g.76814835G>T	NCBI36
NG_008897.1:g.47144C>A , LRG_844:g.47144C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.947C>A
ENST00000556394.2:c.1563C>A	ENSP00000451967.2:p.Ser521Arg
ENST00000682128.1:c.323C>A	ENSP00000506976.1:n.323C>A
ENST00000682247.1:c.2011C>A	ENSP00000507213.1:p.His671Asn
ENST00000682395.1:n.2486C>A
ENST00000682459.1:n.1725C>A
ENST00000682467.1:c.1892-231C>A	ENSP00000508062.1:n.1892-231C>A
ENST00000682615.1:n.376C>A
ENST00000682795.1:c.2169C>A	ENSP00000507574.1:p.Ser723Arg
ENST00000682895.1:n.1738C>A
ENST00000682955.1:n.1596C>A
ENST00000683095.1:c.428C>A	ENSP00000508040.1:n.428C>A
ENST00000683188.1:c.2283C>A
ENST00000683380.1:n.1686C>A
ENST00000683907.1:c.287C>A	ENSP00000507754.1:n.287C>A
ENST00000684172.1:c.398C>A	ENSP00000508391.1:n.398C>A
ENST00000684259.1:n.3789C>A
ENST00000684538.1:n.1401C>A
ENST00000684549.1:n.1573C>A
ENST00000261534.9:c.2022C>A MANE Select	ENSP00000261534.4:p.Ser674Arg
ENST00000261534.8:c.2022C>A	ENSP00000261534.4:p.Ser674Arg
ENST00000452340.7:n.2998C>A
ENST00000554767.5:n.2808C>A
ENST00000555710.1:c.383C>A	ENSP00000451730.1:n.383C>A
ENST00000556394.1:c.88-231C>A
ENST00000556446.1:n.323C>A
ENST00000602717.5:c.237C>A	ENSP00000487704.1:p.Ser79Arg
NM_013382.5:c.2022C>A , LRG_844t1:c.2022C>A	NP_037514.2:p.Ser674Arg
XM_011536675.1:c.2211C>A	XP_011534977.1:p.Ser737Arg
XM_011536676.1:c.1878C>A	XP_011534978.1:p.Ser626Arg
XM_011536677.1:c.1752C>A	XP_011534979.1:p.Ser584Arg
XM_011536679.1:c.1305C>A	XP_011534981.1:p.Ser435Arg
XR_943416.1:n.2275C>A
XM_011536675.2:c.2211C>A	XP_011534977.1:p.Ser737Arg
XM_011536676.2:c.1878C>A	XP_011534978.1:p.Ser626Arg
XM_011536677.3:c.1752C>A	XP_011534979.1:p.Ser584Arg
XR_001750279.1:n.2308C>A
XR_001750282.1:n.2961C>A
XR_943416.3:n.2273C>A
NM_013382.6:c.2022C>A	NP_037514.2:p.Ser674Arg
NM_013382.7:c.2022C>A MANE Select	NP_037514.2:p.Ser674Arg