Canonical Allele Identifier: CA390514240

Gene: POMT2

Linked Data

• dbSNP Id: rs1594883867
• gnomAD v4: 14-77278859-C-G
• MyVariant Identifiers: chr14:g.77745202C>G (hg19) ; chr14:g.77278859C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278859C>G , CM000676.2:g.77278859C>G	GRCh38
NC_000014.8:g.77745202C>G , CM000676.1:g.77745202C>G	GRCh37
NC_000014.7:g.76814955C>G	NCBI36
NG_008897.1:g.47024G>C , LRG_844:g.47024G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.827G>C
ENST00000556394.2:c.1443G>C	ENSP00000451967.2:p.Gln481His
ENST00000682128.1:c.203G>C	ENSP00000506976.1:n.203G>C
ENST00000682247.1:c.1892-1G>C	ENSP00000507213.1:n.1892-1G>C
ENST00000682395.1:n.2366G>C
ENST00000682459.1:n.1605G>C
ENST00000682467.1:c.1892-351G>C	ENSP00000508062.1:n.1892-351G>C
ENST00000682615.1:n.256G>C
ENST00000682795.1:c.2049G>C	ENSP00000507574.1:p.Gln683His
ENST00000682895.1:n.1618G>C
ENST00000682955.1:n.1476G>C
ENST00000683095.1:c.308G>C	ENSP00000508040.1:n.308G>C
ENST00000683188.1:c.2163G>C
ENST00000683380.1:n.1566G>C
ENST00000683828.1:c.1611G>C
ENST00000683907.1:c.167G>C	ENSP00000507754.1:p.Arg56Thr
ENST00000684172.1:c.278G>C	ENSP00000508391.1:n.278G>C
ENST00000684259.1:n.3669G>C
ENST00000684538.1:n.1281G>C
ENST00000684549.1:n.1453G>C
ENST00000261534.9:c.1902G>C MANE Select	ENSP00000261534.4:p.Gln634His
ENST00000261534.8:c.1902G>C	ENSP00000261534.4:p.Gln634His
ENST00000452340.7:n.2878G>C
ENST00000554767.5:n.2688G>C
ENST00000555134.1:n.827G>C
ENST00000555710.1:c.263G>C	ENSP00000451730.1:n.263G>C
ENST00000556171.1:c.494G>C
ENST00000556394.1:c.88-351G>C
ENST00000556446.1:n.203G>C
ENST00000602717.5:c.117G>C	ENSP00000487704.1:p.Gln39His
NM_013382.5:c.1902G>C , LRG_844t1:c.1902G>C	NP_037514.2:p.Gln634His
XM_011536675.1:c.2091G>C	XP_011534977.1:p.Gln697His
XM_011536676.1:c.1758G>C	XP_011534978.1:p.Gln586His
XM_011536677.1:c.1632G>C	XP_011534979.1:p.Gln544His
XM_011536679.1:c.1185G>C	XP_011534981.1:p.Gln395His
XR_943416.1:n.2155G>C
XM_011536675.2:c.2091G>C	XP_011534977.1:p.Gln697His
XM_011536676.2:c.1758G>C	XP_011534978.1:p.Gln586His
XM_011536677.3:c.1632G>C	XP_011534979.1:p.Gln544His
XR_001750279.1:n.2188G>C
XR_001750282.1:n.2841G>C
XR_943416.3:n.2153G>C
NM_013382.6:c.1902G>C	NP_037514.2:p.Gln634His
NM_013382.7:c.1902G>C MANE Select	NP_037514.2:p.Gln634His