Canonical Allele Identifier: CA390513791

Gene: POMT2

Linked Data

• dbSNP Id: rs1890082784
• MyVariant Identifiers: chr14:g.77745095A>T (hg19) ; chr14:g.77278752A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278752A>T , CM000676.2:g.77278752A>T	GRCh38
NC_000014.8:g.77745095A>T , CM000676.1:g.77745095A>T	GRCh37
NC_000014.7:g.76814848A>T	NCBI36
NG_008897.1:g.47131T>A , LRG_844:g.47131T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.934T>A
ENST00000556394.2:c.1550T>A	ENSP00000451967.2:p.Met517Lys
ENST00000682128.1:c.310T>A	ENSP00000506976.1:n.310T>A
ENST00000682247.1:c.1998T>A	ENSP00000507213.1:p.His666Gln
ENST00000682395.1:n.2473T>A
ENST00000682459.1:n.1712T>A
ENST00000682467.1:c.1892-244T>A	ENSP00000508062.1:n.1892-244T>A
ENST00000682615.1:n.363T>A
ENST00000682795.1:c.2156T>A	ENSP00000507574.1:p.Met719Lys
ENST00000682895.1:n.1725T>A
ENST00000682955.1:n.1583T>A
ENST00000683095.1:c.415T>A	ENSP00000508040.1:n.415T>A
ENST00000683188.1:c.2270T>A
ENST00000683380.1:n.1673T>A
ENST00000683907.1:c.274T>A	ENSP00000507754.1:n.274T>A
ENST00000684172.1:c.385T>A	ENSP00000508391.1:n.385T>A
ENST00000684259.1:n.3776T>A
ENST00000684538.1:n.1388T>A
ENST00000684549.1:n.1560T>A
ENST00000261534.9:c.2009T>A MANE Select	ENSP00000261534.4:p.Met670Lys
ENST00000261534.8:c.2009T>A	ENSP00000261534.4:p.Met670Lys
ENST00000452340.7:n.2985T>A
ENST00000554767.5:n.2795T>A
ENST00000555710.1:c.370T>A	ENSP00000451730.1:n.370T>A
ENST00000556394.1:c.88-244T>A
ENST00000556446.1:n.310T>A
ENST00000602717.5:c.224T>A	ENSP00000487704.1:p.Met75Lys
NM_013382.5:c.2009T>A , LRG_844t1:c.2009T>A	NP_037514.2:p.Met670Lys
XM_011536675.1:c.2198T>A	XP_011534977.1:p.Met733Lys
XM_011536676.1:c.1865T>A	XP_011534978.1:p.Met622Lys
XM_011536677.1:c.1739T>A	XP_011534979.1:p.Met580Lys
XM_011536679.1:c.1292T>A	XP_011534981.1:p.Met431Lys
XR_943416.1:n.2262T>A
XM_011536675.2:c.2198T>A	XP_011534977.1:p.Met733Lys
XM_011536676.2:c.1865T>A	XP_011534978.1:p.Met622Lys
XM_011536677.3:c.1739T>A	XP_011534979.1:p.Met580Lys
XR_001750279.1:n.2295T>A
XR_001750282.1:n.2948T>A
XR_943416.3:n.2260T>A
NM_013382.6:c.2009T>A	NP_037514.2:p.Met670Lys
NM_013382.7:c.2009T>A MANE Select	NP_037514.2:p.Met670Lys