Canonical Allele Identifier: CA390514147

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745178C>A (hg19) ; chr14:g.77278835C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278835C>A , CM000676.2:g.77278835C>A	GRCh38
NC_000014.8:g.77745178C>A , CM000676.1:g.77745178C>A	GRCh37
NC_000014.7:g.76814931C>A	NCBI36
NG_008897.1:g.47048G>T , LRG_844:g.47048G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.851G>T
ENST00000556394.2:c.1467G>T	ENSP00000451967.2:p.Gln489His
ENST00000682128.1:c.227G>T	ENSP00000506976.1:n.227G>T
ENST00000682247.1:c.1915G>T	ENSP00000507213.1:p.Gly639Cys
ENST00000682395.1:n.2390G>T
ENST00000682459.1:n.1629G>T
ENST00000682467.1:c.1892-327G>T	ENSP00000508062.1:n.1892-327G>T
ENST00000682615.1:n.280G>T
ENST00000682795.1:c.2073G>T	ENSP00000507574.1:p.Gln691His
ENST00000682895.1:n.1642G>T
ENST00000682955.1:n.1500G>T
ENST00000683095.1:c.332G>T	ENSP00000508040.1:n.332G>T
ENST00000683188.1:c.2187G>T
ENST00000683380.1:n.1590G>T
ENST00000683828.1:c.1635G>T
ENST00000683907.1:c.191G>T	ENSP00000507754.1:p.Arg64Met
ENST00000684172.1:c.302G>T	ENSP00000508391.1:n.302G>T
ENST00000684259.1:n.3693G>T
ENST00000684538.1:n.1305G>T
ENST00000684549.1:n.1477G>T
ENST00000261534.9:c.1926G>T MANE Select	ENSP00000261534.4:p.Gln642His
ENST00000261534.8:c.1926G>T	ENSP00000261534.4:p.Gln642His
ENST00000452340.7:n.2902G>T
ENST00000554767.5:n.2712G>T
ENST00000555134.1:n.851G>T
ENST00000555710.1:c.287G>T	ENSP00000451730.1:n.287G>T
ENST00000556171.1:c.518G>T
ENST00000556394.1:c.88-327G>T
ENST00000556446.1:n.227G>T
ENST00000602717.5:c.141G>T	ENSP00000487704.1:p.Gln47His
NM_013382.5:c.1926G>T , LRG_844t1:c.1926G>T	NP_037514.2:p.Gln642His
XM_011536675.1:c.2115G>T	XP_011534977.1:p.Gln705His
XM_011536676.1:c.1782G>T	XP_011534978.1:p.Gln594His
XM_011536677.1:c.1656G>T	XP_011534979.1:p.Gln552His
XM_011536679.1:c.1209G>T	XP_011534981.1:p.Gln403His
XR_943416.1:n.2179G>T
XM_011536675.2:c.2115G>T	XP_011534977.1:p.Gln705His
XM_011536676.2:c.1782G>T	XP_011534978.1:p.Gln594His
XM_011536677.3:c.1656G>T	XP_011534979.1:p.Gln552His
XR_001750279.1:n.2212G>T
XR_001750282.1:n.2865G>T
XR_943416.3:n.2177G>T
NM_013382.6:c.1926G>T	NP_037514.2:p.Gln642His
NM_013382.7:c.1926G>T MANE Select	NP_037514.2:p.Gln642His