Canonical Allele Identifier: CA390517696

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753118C>A (hg19) ; chr14:g.77286775C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286775C>A , CM000676.2:g.77286775C>A	GRCh38
NC_000014.8:g.77753118C>A , CM000676.1:g.77753118C>A	GRCh37
NC_000014.7:g.76822871C>A	NCBI36
NG_008897.1:g.39108G>T , LRG_844:g.39108G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.842G>T	ENSP00000451967.2:p.Arg281Leu
ENST00000682247.1:c.1301G>T	ENSP00000507213.1:p.Arg434Leu
ENST00000682382.1:c.873G>T
ENST00000682395.1:n.1479G>T
ENST00000682459.1:n.1004G>T
ENST00000682467.1:c.1301G>T	ENSP00000508062.1:p.Arg434Leu
ENST00000682706.1:n.78G>T
ENST00000682795.1:c.1301G>T	ENSP00000507574.1:p.Arg434Leu
ENST00000682895.1:n.1017G>T
ENST00000682955.1:n.589G>T
ENST00000683188.1:c.1276G>T
ENST00000683328.1:c.294G>T	ENSP00000508096.1:n.294G>T
ENST00000683380.1:n.965G>T
ENST00000683828.1:c.1010G>T
ENST00000684259.1:n.1152G>T
ENST00000684444.1:c.48G>T
ENST00000684549.1:n.852G>T
ENST00000261534.9:c.1301G>T MANE Select	ENSP00000261534.4:p.Arg434Leu
ENST00000261534.8:c.1301G>T	ENSP00000261534.4:p.Arg434Leu
ENST00000452340.7:n.1324G>T
ENST00000553880.5:n.172G>T
ENST00000554767.5:n.2087G>T
ENST00000554884.5:n.293G>T
ENST00000556404.1:n.435G>T
ENST00000556851.1:n.337G>T
ENST00000557675.5:n.391G>T
NM_013382.5:c.1301G>T , LRG_844t1:c.1301G>T	NP_037514.2:p.Arg434Leu
XM_011536675.1:c.1301G>T	XP_011534977.1:p.Arg434Leu
XM_011536676.1:c.968G>T	XP_011534978.1:p.Arg323Leu
XM_011536677.1:c.842G>T	XP_011534979.1:p.Arg281Leu
XM_011536678.1:c.1301G>T	XP_011534980.1:p.Arg434Leu
XM_011536679.1:c.395G>T	XP_011534981.1:p.Arg132Leu
XR_943416.1:n.1504G>T
XM_011536675.2:c.1301G>T	XP_011534977.1:p.Arg434Leu
XM_011536676.2:c.968G>T	XP_011534978.1:p.Arg323Leu
XM_011536677.3:c.842G>T	XP_011534979.1:p.Arg281Leu
XR_001750279.1:n.1501G>T
XR_001750282.1:n.1954G>T
XR_943416.3:n.1502G>T
NM_013382.6:c.1301G>T	NP_037514.2:p.Arg434Leu
NM_013382.7:c.1301G>T MANE Select	NP_037514.2:p.Arg434Leu