Canonical Allele Identifier: CA487324476

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753152A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.808T>C	ENSP00000451967.2:p.Leu270=
ENST00000682247.1:c.1267T>C	ENSP00000507213.1:p.Leu423=
ENST00000682382.1:c.839T>C
ENST00000682395.1:n.1445T>C
ENST00000682459.1:n.970T>C
ENST00000682467.1:c.1267T>C	ENSP00000508062.1:p.Leu423=
ENST00000682706.1:n.44T>C
ENST00000682795.1:c.1267T>C	ENSP00000507574.1:p.Leu423=
ENST00000682895.1:n.983T>C
ENST00000682955.1:n.555T>C
ENST00000683188.1:c.1242T>C
ENST00000683328.1:c.260T>C	ENSP00000508096.1:n.260T>C
ENST00000683380.1:n.931T>C
ENST00000683828.1:c.976T>C
ENST00000684259.1:n.1118T>C
ENST00000684444.1:c.14T>C
ENST00000684549.1:n.818T>C
ENST00000261534.9:c.1267T>C MANE Select	ENSP00000261534.4:p.Leu423=
ENST00000261534.8:c.1267T>C	ENSP00000261534.4:p.Leu423=
ENST00000452340.7:n.1290T>C
ENST00000553880.5:n.138T>C
ENST00000554767.5:n.2053T>C
ENST00000554884.5:n.259T>C
ENST00000556404.1:n.401T>C
ENST00000556851.1:n.303T>C
ENST00000557675.5:n.357T>C
NM_013382.5:c.1267T>C , LRG_844t1:c.1267T>C	NP_037514.2:p.Leu423=
XM_011536675.1:c.1267T>C	XP_011534977.1:p.Leu423=
XM_011536676.1:c.934T>C	XP_011534978.1:p.Leu312=
XM_011536677.1:c.808T>C	XP_011534979.1:p.Leu270=
XM_011536678.1:c.1267T>C	XP_011534980.1:p.Leu423=
XM_011536679.1:c.361T>C	XP_011534981.1:p.Leu121=
XR_943416.1:n.1470T>C
XM_011536675.2:c.1267T>C	XP_011534977.1:p.Leu423=
XM_011536676.2:c.934T>C	XP_011534978.1:p.Leu312=
XM_011536677.3:c.808T>C	XP_011534979.1:p.Leu270=
XR_001750279.1:n.1467T>C
XR_001750282.1:n.1920T>C
XR_943416.3:n.1468T>C
NM_013382.6:c.1267T>C	NP_037514.2:p.Leu423=
NM_013382.7:c.1267T>C MANE Select	NP_037514.2:p.Leu423=