Canonical Allele Identifier: CA390514255

Gene: POMT2

Linked Data

• dbSNP Id: rs1433953790
• gnomAD v2: 14-77745206-G-A
• gnomAD v4: 14-77278863-G-A
• MyVariant Identifiers: chr14:g.77745206G>A (hg19) ; chr14:g.77278863G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278863G>A , CM000676.2:g.77278863G>A	GRCh38
NC_000014.8:g.77745206G>A , CM000676.1:g.77745206G>A	GRCh37
NC_000014.7:g.76814959G>A	NCBI36
NG_008897.1:g.47020C>T , LRG_844:g.47020C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.823C>T
ENST00000556394.2:c.1439C>T	ENSP00000451967.2:p.Ser480Phe
ENST00000682128.1:c.199C>T	ENSP00000506976.1:n.199C>T
ENST00000682247.1:c.1892-5C>T	ENSP00000507213.1:n.1892-5C>T
ENST00000682395.1:n.2362C>T
ENST00000682459.1:n.1601C>T
ENST00000682467.1:c.1892-355C>T	ENSP00000508062.1:n.1892-355C>T
ENST00000682615.1:n.252C>T
ENST00000682795.1:c.2045C>T	ENSP00000507574.1:p.Ser682Phe
ENST00000682895.1:n.1614C>T
ENST00000682955.1:n.1472C>T
ENST00000683095.1:c.304C>T	ENSP00000508040.1:n.304C>T
ENST00000683188.1:c.2159C>T
ENST00000683380.1:n.1562C>T
ENST00000683828.1:c.1607C>T
ENST00000683907.1:c.163C>T	ENSP00000507754.1:p.Pro55Ser
ENST00000684172.1:c.274C>T	ENSP00000508391.1:n.274C>T
ENST00000684259.1:n.3665C>T
ENST00000684538.1:n.1277C>T
ENST00000684549.1:n.1449C>T
ENST00000261534.9:c.1898C>T MANE Select	ENSP00000261534.4:p.Ser633Phe
ENST00000261534.8:c.1898C>T	ENSP00000261534.4:p.Ser633Phe
ENST00000452340.7:n.2874C>T
ENST00000554767.5:n.2684C>T
ENST00000555134.1:n.823C>T
ENST00000555710.1:c.259C>T	ENSP00000451730.1:n.259C>T
ENST00000556171.1:c.490C>T
ENST00000556394.1:c.88-355C>T
ENST00000556446.1:n.199C>T
ENST00000602717.5:c.113C>T	ENSP00000487704.1:p.Ser38Phe
NM_013382.5:c.1898C>T , LRG_844t1:c.1898C>T	NP_037514.2:p.Ser633Phe
XM_011536675.1:c.2087C>T	XP_011534977.1:p.Ser696Phe
XM_011536676.1:c.1754C>T	XP_011534978.1:p.Ser585Phe
XM_011536677.1:c.1628C>T	XP_011534979.1:p.Ser543Phe
XM_011536679.1:c.1181C>T	XP_011534981.1:p.Ser394Phe
XR_943416.1:n.2151C>T
XM_011536675.2:c.2087C>T	XP_011534977.1:p.Ser696Phe
XM_011536676.2:c.1754C>T	XP_011534978.1:p.Ser585Phe
XM_011536677.3:c.1628C>T	XP_011534979.1:p.Ser543Phe
XR_001750279.1:n.2184C>T
XR_001750282.1:n.2837C>T
XR_943416.3:n.2149C>T
NM_013382.6:c.1898C>T	NP_037514.2:p.Ser633Phe
NM_013382.7:c.1898C>T MANE Select	NP_037514.2:p.Ser633Phe