Canonical Allele Identifier: CA390521066

Gene: POMT2

Linked Data

• dbSNP Id: rs1891231133
• gnomAD v3: 14-77306404-T-C
• gnomAD v4: 14-77306404-T-C
• MyVariant Identifiers: chr14:g.77772747T>C (hg19) ; chr14:g.77306404T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306404T>C , CM000676.2:g.77306404T>C	GRCh38
NC_000014.8:g.77772747T>C , CM000676.1:g.77772747T>C	GRCh37
NC_000014.7:g.76842500T>C	NCBI36
NG_008897.1:g.19479A>G , LRG_844:g.19479A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.100A>G
ENST00000556394.2:c.249-1604A>G	ENSP00000451967.2:n.249-1604A>G
ENST00000556880.6:n.304A>G
ENST00000682247.1:c.371A>G	ENSP00000507213.1:p.Asp124Gly
ENST00000682382.1:c.319A>G
ENST00000682395.1:n.100A>G
ENST00000682459.1:n.100A>G
ENST00000682467.1:c.371A>G	ENSP00000508062.1:p.Asp124Gly
ENST00000682795.1:c.371A>G	ENSP00000507574.1:p.Asp124Gly
ENST00000682895.1:n.87A>G
ENST00000682955.1:n.100A>G
ENST00000683188.1:c.166A>G
ENST00000683380.1:n.100A>G
ENST00000683828.1:c.240A>G
ENST00000684066.1:n.66A>G
ENST00000684102.1:n.117A>G
ENST00000684259.1:n.222A>G
ENST00000684479.1:n.38A>G
ENST00000684549.1:n.100A>G
ENST00000684600.1:c.185A>G
ENST00000684670.1:n.38A>G
ENST00000684746.1:n.68A>G
ENST00000261534.9:c.371A>G MANE Select	ENSP00000261534.4:p.Asp124Gly
ENST00000261534.8:c.371A>G	ENSP00000261534.4:p.Asp124Gly
ENST00000452340.7:n.394A>G
ENST00000553863.5:n.100A>G
ENST00000554948.1:c.98A>G	ENSP00000452060.1:p.Asp33Gly
ENST00000555675.5:n.87A>G
ENST00000555788.5:n.205A>G
ENST00000556326.5:c.*37A>G	ENSP00000450630.1:n.*37A>G
ENST00000556880.5:n.304A>G
ENST00000557525.1:n.461A>G
NM_013382.5:c.371A>G , LRG_844t1:c.371A>G	NP_037514.2:p.Asp124Gly
XM_011536675.1:c.371A>G	XP_011534977.1:p.Asp124Gly
XM_011536676.1:c.38A>G	XP_011534978.1:p.Asp13Gly
XM_011536677.1:c.371A>G	XP_011534979.1:p.Asp124Gly
XM_011536678.1:c.371A>G	XP_011534980.1:p.Asp124Gly
XM_011536680.1:c.371A>G	XP_011534982.1:p.Asp124Gly
XR_943416.1:n.574A>G
XM_011536675.2:c.371A>G	XP_011534977.1:p.Asp124Gly
XM_011536676.2:c.38A>G	XP_011534978.1:p.Asp13Gly
XM_011536677.3:c.371A>G	XP_011534979.1:p.Asp124Gly
XR_001750279.1:n.571A>G
XR_001750282.1:n.575A>G
XR_943416.3:n.572A>G
NM_013382.6:c.371A>G	NP_037514.2:p.Asp124Gly
NM_013382.7:c.371A>G MANE Select	NP_037514.2:p.Asp124Gly