Canonical Allele Identifier: CA390513870

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745112G>C (hg19) ; chr14:g.77278769G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278769G>C , CM000676.2:g.77278769G>C	GRCh38
NC_000014.8:g.77745112G>C , CM000676.1:g.77745112G>C	GRCh37
NC_000014.7:g.76814865G>C	NCBI36
NG_008897.1:g.47114C>G , LRG_844:g.47114C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.917C>G
ENST00000556394.2:c.1533C>G	ENSP00000451967.2:p.His511Gln
ENST00000682128.1:c.293C>G	ENSP00000506976.1:n.293C>G
ENST00000682247.1:c.1981C>G	ENSP00000507213.1:p.Pro661Ala
ENST00000682395.1:n.2456C>G
ENST00000682459.1:n.1695C>G
ENST00000682467.1:c.1892-261C>G	ENSP00000508062.1:n.1892-261C>G
ENST00000682615.1:n.346C>G
ENST00000682795.1:c.2139C>G	ENSP00000507574.1:p.His713Gln
ENST00000682895.1:n.1708C>G
ENST00000682955.1:n.1566C>G
ENST00000683095.1:c.398C>G	ENSP00000508040.1:n.398C>G
ENST00000683188.1:c.2253C>G
ENST00000683380.1:n.1656C>G
ENST00000683907.1:c.257C>G	ENSP00000507754.1:n.257C>G
ENST00000684172.1:c.368C>G	ENSP00000508391.1:n.368C>G
ENST00000684259.1:n.3759C>G
ENST00000684538.1:n.1371C>G
ENST00000684549.1:n.1543C>G
ENST00000261534.9:c.1992C>G MANE Select	ENSP00000261534.4:p.His664Gln
ENST00000261534.8:c.1992C>G	ENSP00000261534.4:p.His664Gln
ENST00000452340.7:n.2968C>G
ENST00000554767.5:n.2778C>G
ENST00000555710.1:c.353C>G	ENSP00000451730.1:n.353C>G
ENST00000556394.1:c.88-261C>G
ENST00000556446.1:n.293C>G
ENST00000602717.5:c.207C>G	ENSP00000487704.1:p.His69Gln
NM_013382.5:c.1992C>G , LRG_844t1:c.1992C>G	NP_037514.2:p.His664Gln
XM_011536675.1:c.2181C>G	XP_011534977.1:p.His727Gln
XM_011536676.1:c.1848C>G	XP_011534978.1:p.His616Gln
XM_011536677.1:c.1722C>G	XP_011534979.1:p.His574Gln
XM_011536679.1:c.1275C>G	XP_011534981.1:p.His425Gln
XR_943416.1:n.2245C>G
XM_011536675.2:c.2181C>G	XP_011534977.1:p.His727Gln
XM_011536676.2:c.1848C>G	XP_011534978.1:p.His616Gln
XM_011536677.3:c.1722C>G	XP_011534979.1:p.His574Gln
XR_001750279.1:n.2278C>G
XR_001750282.1:n.2931C>G
XR_943416.3:n.2243C>G
NM_013382.6:c.1992C>G	NP_037514.2:p.His664Gln
NM_013382.7:c.1992C>G MANE Select	NP_037514.2:p.His664Gln