Canonical Allele Identifier: CA390514010

Gene: POMT2

Linked Data

• dbSNP Id: rs1890086675
• MyVariant Identifiers: chr14:g.77745148G>T (hg19) ; chr14:g.77278805G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278805G>T , CM000676.2:g.77278805G>T	GRCh38
NC_000014.8:g.77745148G>T , CM000676.1:g.77745148G>T	GRCh37
NC_000014.7:g.76814901G>T	NCBI36
NG_008897.1:g.47078C>A , LRG_844:g.47078C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.881C>A
ENST00000556394.2:c.1497C>A	ENSP00000451967.2:p.Phe499Leu
ENST00000682128.1:c.257C>A	ENSP00000506976.1:n.257C>A
ENST00000682247.1:c.1945C>A	ENSP00000507213.1:p.Pro649Thr
ENST00000682395.1:n.2420C>A
ENST00000682459.1:n.1659C>A
ENST00000682467.1:c.1892-297C>A	ENSP00000508062.1:n.1892-297C>A
ENST00000682615.1:n.310C>A
ENST00000682795.1:c.2103C>A	ENSP00000507574.1:p.Phe701Leu
ENST00000682895.1:n.1672C>A
ENST00000682955.1:n.1530C>A
ENST00000683095.1:c.362C>A	ENSP00000508040.1:n.362C>A
ENST00000683188.1:c.2217C>A
ENST00000683380.1:n.1620C>A
ENST00000683828.1:c.1665C>A
ENST00000683907.1:c.221C>A	ENSP00000507754.1:p.Ser74Tyr
ENST00000684172.1:c.332C>A	ENSP00000508391.1:n.332C>A
ENST00000684259.1:n.3723C>A
ENST00000684538.1:n.1335C>A
ENST00000684549.1:n.1507C>A
ENST00000261534.9:c.1956C>A MANE Select	ENSP00000261534.4:p.Phe652Leu
ENST00000261534.8:c.1956C>A	ENSP00000261534.4:p.Phe652Leu
ENST00000452340.7:n.2932C>A
ENST00000554767.5:n.2742C>A
ENST00000555710.1:c.317C>A	ENSP00000451730.1:n.317C>A
ENST00000556171.1:c.548C>A
ENST00000556394.1:c.88-297C>A
ENST00000556446.1:n.257C>A
ENST00000602717.5:c.171C>A	ENSP00000487704.1:p.Phe57Leu
NM_013382.5:c.1956C>A , LRG_844t1:c.1956C>A	NP_037514.2:p.Phe652Leu
XM_011536675.1:c.2145C>A	XP_011534977.1:p.Phe715Leu
XM_011536676.1:c.1812C>A	XP_011534978.1:p.Phe604Leu
XM_011536677.1:c.1686C>A	XP_011534979.1:p.Phe562Leu
XM_011536679.1:c.1239C>A	XP_011534981.1:p.Phe413Leu
XR_943416.1:n.2209C>A
XM_011536675.2:c.2145C>A	XP_011534977.1:p.Phe715Leu
XM_011536676.2:c.1812C>A	XP_011534978.1:p.Phe604Leu
XM_011536677.3:c.1686C>A	XP_011534979.1:p.Phe562Leu
XR_001750279.1:n.2242C>A
XR_001750282.1:n.2895C>A
XR_943416.3:n.2207C>A
NM_013382.6:c.1956C>A	NP_037514.2:p.Phe652Leu
NM_013382.7:c.1956C>A MANE Select	NP_037514.2:p.Phe652Leu