Canonical Allele Identifier: CA390514259

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745206G>C (hg19) ; chr14:g.77278863G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.823C>G
ENST00000556394.2:c.1439C>G	ENSP00000451967.2:p.Ser480Cys
ENST00000682128.1:c.199C>G	ENSP00000506976.1:n.199C>G
ENST00000682247.1:c.1892-5C>G	ENSP00000507213.1:n.1892-5C>G
ENST00000682395.1:n.2362C>G
ENST00000682459.1:n.1601C>G
ENST00000682467.1:c.1892-355C>G	ENSP00000508062.1:n.1892-355C>G
ENST00000682615.1:n.252C>G
ENST00000682795.1:c.2045C>G	ENSP00000507574.1:p.Ser682Cys
ENST00000682895.1:n.1614C>G
ENST00000682955.1:n.1472C>G
ENST00000683095.1:c.304C>G	ENSP00000508040.1:n.304C>G
ENST00000683188.1:c.2159C>G
ENST00000683380.1:n.1562C>G
ENST00000683828.1:c.1607C>G
ENST00000683907.1:c.163C>G	ENSP00000507754.1:p.Pro55Ala
ENST00000684172.1:c.274C>G	ENSP00000508391.1:n.274C>G
ENST00000684259.1:n.3665C>G
ENST00000684538.1:n.1277C>G
ENST00000684549.1:n.1449C>G
ENST00000261534.9:c.1898C>G MANE Select	ENSP00000261534.4:p.Ser633Cys
ENST00000261534.8:c.1898C>G	ENSP00000261534.4:p.Ser633Cys
ENST00000452340.7:n.2874C>G
ENST00000554767.5:n.2684C>G
ENST00000555134.1:n.823C>G
ENST00000555710.1:c.259C>G	ENSP00000451730.1:n.259C>G
ENST00000556171.1:c.490C>G
ENST00000556394.1:c.88-355C>G
ENST00000556446.1:n.199C>G
ENST00000602717.5:c.113C>G	ENSP00000487704.1:p.Ser38Cys
NM_013382.5:c.1898C>G , LRG_844t1:c.1898C>G	NP_037514.2:p.Ser633Cys
XM_011536675.1:c.2087C>G	XP_011534977.1:p.Ser696Cys
XM_011536676.1:c.1754C>G	XP_011534978.1:p.Ser585Cys
XM_011536677.1:c.1628C>G	XP_011534979.1:p.Ser543Cys
XM_011536679.1:c.1181C>G	XP_011534981.1:p.Ser394Cys
XR_943416.1:n.2151C>G
XM_011536675.2:c.2087C>G	XP_011534977.1:p.Ser696Cys
XM_011536676.2:c.1754C>G	XP_011534978.1:p.Ser585Cys
XM_011536677.3:c.1628C>G	XP_011534979.1:p.Ser543Cys
XR_001750279.1:n.2184C>G
XR_001750282.1:n.2837C>G
XR_943416.3:n.2149C>G
NM_013382.6:c.1898C>G	NP_037514.2:p.Ser633Cys
NM_013382.7:c.1898C>G MANE Select	NP_037514.2:p.Ser633Cys