Canonical Allele Identifier: CA390514252

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745204G>C (hg19) ; chr14:g.77278861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278861G>C , CM000676.2:g.77278861G>C	GRCh38
NC_000014.8:g.77745204G>C , CM000676.1:g.77745204G>C	GRCh37
NC_000014.7:g.76814957G>C	NCBI36
NG_008897.1:g.47022C>G , LRG_844:g.47022C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.825C>G
ENST00000556394.2:c.1441C>G	ENSP00000451967.2:p.Gln481Glu
ENST00000682128.1:c.201C>G	ENSP00000506976.1:n.201C>G
ENST00000682247.1:c.1892-3C>G	ENSP00000507213.1:n.1892-3C>G
ENST00000682395.1:n.2364C>G
ENST00000682459.1:n.1603C>G
ENST00000682467.1:c.1892-353C>G	ENSP00000508062.1:n.1892-353C>G
ENST00000682615.1:n.254C>G
ENST00000682795.1:c.2047C>G	ENSP00000507574.1:p.Gln683Glu
ENST00000682895.1:n.1616C>G
ENST00000682955.1:n.1474C>G
ENST00000683095.1:c.306C>G	ENSP00000508040.1:n.306C>G
ENST00000683188.1:c.2161C>G
ENST00000683380.1:n.1564C>G
ENST00000683828.1:c.1609C>G
ENST00000683907.1:c.165C>G	ENSP00000507754.1:p.Pro55=
ENST00000684172.1:c.276C>G	ENSP00000508391.1:n.276C>G
ENST00000684259.1:n.3667C>G
ENST00000684538.1:n.1279C>G
ENST00000684549.1:n.1451C>G
ENST00000261534.9:c.1900C>G MANE Select	ENSP00000261534.4:p.Gln634Glu
ENST00000261534.8:c.1900C>G	ENSP00000261534.4:p.Gln634Glu
ENST00000452340.7:n.2876C>G
ENST00000554767.5:n.2686C>G
ENST00000555134.1:n.825C>G
ENST00000555710.1:c.261C>G	ENSP00000451730.1:n.261C>G
ENST00000556171.1:c.492C>G
ENST00000556394.1:c.88-353C>G
ENST00000556446.1:n.201C>G
ENST00000602717.5:c.115C>G	ENSP00000487704.1:p.Gln39Glu
NM_013382.5:c.1900C>G , LRG_844t1:c.1900C>G	NP_037514.2:p.Gln634Glu
XM_011536675.1:c.2089C>G	XP_011534977.1:p.Gln697Glu
XM_011536676.1:c.1756C>G	XP_011534978.1:p.Gln586Glu
XM_011536677.1:c.1630C>G	XP_011534979.1:p.Gln544Glu
XM_011536679.1:c.1183C>G	XP_011534981.1:p.Gln395Glu
XR_943416.1:n.2153C>G
XM_011536675.2:c.2089C>G	XP_011534977.1:p.Gln697Glu
XM_011536676.2:c.1756C>G	XP_011534978.1:p.Gln586Glu
XM_011536677.3:c.1630C>G	XP_011534979.1:p.Gln544Glu
XR_001750279.1:n.2186C>G
XR_001750282.1:n.2839C>G
XR_943416.3:n.2151C>G
NM_013382.6:c.1900C>G	NP_037514.2:p.Gln634Glu
NM_013382.7:c.1900C>G MANE Select	NP_037514.2:p.Gln634Glu