Canonical Allele Identifier: CA390520956

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77772701G>C (hg19) ; chr14:g.77306358G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306358G>C , CM000676.2:g.77306358G>C	GRCh38
NC_000014.8:g.77772701G>C , CM000676.1:g.77772701G>C	GRCh37
NC_000014.7:g.76842454G>C	NCBI36
NG_008897.1:g.19525C>G , LRG_844:g.19525C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.146C>G
ENST00000556394.2:c.249-1558C>G	ENSP00000451967.2:n.249-1558C>G
ENST00000556880.6:n.350C>G
ENST00000682247.1:c.417C>G	ENSP00000507213.1:p.His139Gln
ENST00000682382.1:c.365C>G
ENST00000682395.1:n.146C>G
ENST00000682459.1:n.102+44C>G
ENST00000682467.1:c.417C>G	ENSP00000508062.1:p.His139Gln
ENST00000682795.1:c.417C>G	ENSP00000507574.1:p.His139Gln
ENST00000682895.1:n.133C>G
ENST00000682955.1:n.102+44C>G
ENST00000683188.1:c.212C>G
ENST00000683380.1:n.102+44C>G
ENST00000683828.1:c.286C>G
ENST00000684066.1:n.112C>G
ENST00000684102.1:n.163C>G
ENST00000684259.1:n.268C>G
ENST00000684479.1:n.84C>G
ENST00000684549.1:n.146C>G
ENST00000684600.1:c.231C>G
ENST00000684670.1:n.84C>G
ENST00000684746.1:n.114C>G
ENST00000261534.9:c.417C>G MANE Select	ENSP00000261534.4:p.His139Gln
ENST00000261534.8:c.417C>G	ENSP00000261534.4:p.His139Gln
ENST00000452340.7:n.440C>G
ENST00000553863.5:n.102+44C>G
ENST00000554948.1:c.144C>G	ENSP00000452060.1:p.His48Gln
ENST00000555675.5:n.133C>G
ENST00000555788.5:n.251C>G
ENST00000556326.5:c.*83C>G	ENSP00000450630.1:n.*83C>G
ENST00000556880.5:n.350C>G
ENST00000557525.1:n.507C>G
NM_013382.5:c.417C>G , LRG_844t1:c.417C>G	NP_037514.2:p.His139Gln
XM_011536675.1:c.417C>G	XP_011534977.1:p.His139Gln
XM_011536676.1:c.84C>G	XP_011534978.1:p.His28Gln
XM_011536677.1:c.417C>G	XP_011534979.1:p.His139Gln
XM_011536678.1:c.417C>G	XP_011534980.1:p.His139Gln
XM_011536680.1:c.417C>G	XP_011534982.1:p.His139Gln
XR_943416.1:n.620C>G
XM_011536675.2:c.417C>G	XP_011534977.1:p.His139Gln
XM_011536676.2:c.84C>G	XP_011534978.1:p.His28Gln
XM_011536677.3:c.417C>G	XP_011534979.1:p.His139Gln
XR_001750279.1:n.617C>G
XR_001750282.1:n.621C>G
XR_943416.3:n.618C>G
NM_013382.6:c.417C>G	NP_037514.2:p.His139Gln
NM_013382.7:c.417C>G MANE Select	NP_037514.2:p.His139Gln