Canonical Allele Identifier: CA390517776

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753152A>C (hg19) ; chr14:g.77286809A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286809A>C , CM000676.2:g.77286809A>C	GRCh38
NC_000014.8:g.77753152A>C , CM000676.1:g.77753152A>C	GRCh37
NC_000014.7:g.76822905A>C	NCBI36
NG_008897.1:g.39074T>G , LRG_844:g.39074T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.808T>G	ENSP00000451967.2:p.Leu270Val
ENST00000682247.1:c.1267T>G	ENSP00000507213.1:p.Leu423Val
ENST00000682382.1:c.839T>G
ENST00000682395.1:n.1445T>G
ENST00000682459.1:n.970T>G
ENST00000682467.1:c.1267T>G	ENSP00000508062.1:p.Leu423Val
ENST00000682706.1:n.44T>G
ENST00000682795.1:c.1267T>G	ENSP00000507574.1:p.Leu423Val
ENST00000682895.1:n.983T>G
ENST00000682955.1:n.555T>G
ENST00000683188.1:c.1242T>G
ENST00000683328.1:c.260T>G	ENSP00000508096.1:n.260T>G
ENST00000683380.1:n.931T>G
ENST00000683828.1:c.976T>G
ENST00000684259.1:n.1118T>G
ENST00000684444.1:c.14T>G
ENST00000684549.1:n.818T>G
ENST00000261534.9:c.1267T>G MANE Select	ENSP00000261534.4:p.Leu423Val
ENST00000261534.8:c.1267T>G	ENSP00000261534.4:p.Leu423Val
ENST00000452340.7:n.1290T>G
ENST00000553880.5:n.138T>G
ENST00000554767.5:n.2053T>G
ENST00000554884.5:n.259T>G
ENST00000556404.1:n.401T>G
ENST00000556851.1:n.303T>G
ENST00000557675.5:n.357T>G
NM_013382.5:c.1267T>G , LRG_844t1:c.1267T>G	NP_037514.2:p.Leu423Val
XM_011536675.1:c.1267T>G	XP_011534977.1:p.Leu423Val
XM_011536676.1:c.934T>G	XP_011534978.1:p.Leu312Val
XM_011536677.1:c.808T>G	XP_011534979.1:p.Leu270Val
XM_011536678.1:c.1267T>G	XP_011534980.1:p.Leu423Val
XM_011536679.1:c.361T>G	XP_011534981.1:p.Leu121Val
XR_943416.1:n.1470T>G
XM_011536675.2:c.1267T>G	XP_011534977.1:p.Leu423Val
XM_011536676.2:c.934T>G	XP_011534978.1:p.Leu312Val
XM_011536677.3:c.808T>G	XP_011534979.1:p.Leu270Val
XR_001750279.1:n.1467T>G
XR_001750282.1:n.1920T>G
XR_943416.3:n.1468T>G
NM_013382.6:c.1267T>G	NP_037514.2:p.Leu423Val
NM_013382.7:c.1267T>G MANE Select	NP_037514.2:p.Leu423Val