Canonical Allele Identifier: CA390514148

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.851G>C
ENST00000556394.2:c.1467G>C	ENSP00000451967.2:p.Gln489His
ENST00000682128.1:c.227G>C	ENSP00000506976.1:n.227G>C
ENST00000682247.1:c.1915G>C	ENSP00000507213.1:p.Gly639Arg
ENST00000682395.1:n.2390G>C
ENST00000682459.1:n.1629G>C
ENST00000682467.1:c.1892-327G>C	ENSP00000508062.1:n.1892-327G>C
ENST00000682615.1:n.280G>C
ENST00000682795.1:c.2073G>C	ENSP00000507574.1:p.Gln691His
ENST00000682895.1:n.1642G>C
ENST00000682955.1:n.1500G>C
ENST00000683095.1:c.332G>C	ENSP00000508040.1:n.332G>C
ENST00000683188.1:c.2187G>C
ENST00000683380.1:n.1590G>C
ENST00000683828.1:c.1635G>C
ENST00000683907.1:c.191G>C	ENSP00000507754.1:p.Arg64Thr
ENST00000684172.1:c.302G>C	ENSP00000508391.1:n.302G>C
ENST00000684259.1:n.3693G>C
ENST00000684538.1:n.1305G>C
ENST00000684549.1:n.1477G>C
ENST00000261534.9:c.1926G>C MANE Select	ENSP00000261534.4:p.Gln642His
ENST00000261534.8:c.1926G>C	ENSP00000261534.4:p.Gln642His
ENST00000452340.7:n.2902G>C
ENST00000554767.5:n.2712G>C
ENST00000555134.1:n.851G>C
ENST00000555710.1:c.287G>C	ENSP00000451730.1:n.287G>C
ENST00000556171.1:c.518G>C
ENST00000556394.1:c.88-327G>C
ENST00000556446.1:n.227G>C
ENST00000602717.5:c.141G>C	ENSP00000487704.1:p.Gln47His
NM_013382.5:c.1926G>C , LRG_844t1:c.1926G>C	NP_037514.2:p.Gln642His
XM_011536675.1:c.2115G>C	XP_011534977.1:p.Gln705His
XM_011536676.1:c.1782G>C	XP_011534978.1:p.Gln594His
XM_011536677.1:c.1656G>C	XP_011534979.1:p.Gln552His
XM_011536679.1:c.1209G>C	XP_011534981.1:p.Gln403His
XR_943416.1:n.2179G>C
XM_011536675.2:c.2115G>C	XP_011534977.1:p.Gln705His
XM_011536676.2:c.1782G>C	XP_011534978.1:p.Gln594His
XM_011536677.3:c.1656G>C	XP_011534979.1:p.Gln552His
XR_001750279.1:n.2212G>C
XR_001750282.1:n.2865G>C
XR_943416.3:n.2177G>C
NM_013382.6:c.1926G>C	NP_037514.2:p.Gln642His
NM_013382.7:c.1926G>C MANE Select	NP_037514.2:p.Gln642His