Canonical Allele Identifier: CA390517638

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753089T>C (hg19) ; chr14:g.77286746T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286746T>C , CM000676.2:g.77286746T>C	GRCh38
NC_000014.8:g.77753089T>C , CM000676.1:g.77753089T>C	GRCh37
NC_000014.7:g.76822842T>C	NCBI36
NG_008897.1:g.39137A>G , LRG_844:g.39137A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.871A>G	ENSP00000451967.2:p.Ile291Val
ENST00000682247.1:c.1330A>G	ENSP00000507213.1:p.Ile444Val
ENST00000682382.1:c.902A>G
ENST00000682395.1:n.1508A>G
ENST00000682459.1:n.1033A>G
ENST00000682467.1:c.1330A>G	ENSP00000508062.1:p.Ile444Val
ENST00000682706.1:n.107A>G
ENST00000682795.1:c.1330A>G	ENSP00000507574.1:p.Ile444Val
ENST00000682895.1:n.1046A>G
ENST00000682955.1:n.618A>G
ENST00000683188.1:c.1305A>G
ENST00000683328.1:c.323A>G	ENSP00000508096.1:n.323A>G
ENST00000683380.1:n.994A>G
ENST00000683828.1:c.1039A>G
ENST00000684259.1:n.1181A>G
ENST00000684444.1:c.77A>G
ENST00000684549.1:n.881A>G
ENST00000261534.9:c.1330A>G MANE Select	ENSP00000261534.4:p.Ile444Val
ENST00000261534.8:c.1330A>G	ENSP00000261534.4:p.Ile444Val
ENST00000452340.7:n.1353A>G
ENST00000553880.5:n.201A>G
ENST00000554767.5:n.2116A>G
ENST00000554884.5:n.322A>G
ENST00000556404.1:n.464A>G
ENST00000557675.5:n.420A>G
NM_013382.5:c.1330A>G , LRG_844t1:c.1330A>G	NP_037514.2:p.Ile444Val
XM_011536675.1:c.1330A>G	XP_011534977.1:p.Ile444Val
XM_011536676.1:c.997A>G	XP_011534978.1:p.Ile333Val
XM_011536677.1:c.871A>G	XP_011534979.1:p.Ile291Val
XM_011536678.1:c.1330A>G	XP_011534980.1:p.Ile444Val
XM_011536679.1:c.424A>G	XP_011534981.1:p.Ile142Val
XR_943416.1:n.1533A>G
XM_011536675.2:c.1330A>G	XP_011534977.1:p.Ile444Val
XM_011536676.2:c.997A>G	XP_011534978.1:p.Ile333Val
XM_011536677.3:c.871A>G	XP_011534979.1:p.Ile291Val
XR_001750279.1:n.1530A>G
XR_001750282.1:n.1983A>G
XR_943416.3:n.1531A>G
NM_013382.6:c.1330A>G	NP_037514.2:p.Ile444Val
NM_013382.7:c.1330A>G MANE Select	NP_037514.2:p.Ile444Val