Canonical Allele Identifier: CA390517785

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753155T>G (hg19) ; chr14:g.77286812T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286812T>G , CM000676.2:g.77286812T>G	GRCh38
NC_000014.8:g.77753155T>G , CM000676.1:g.77753155T>G	GRCh37
NC_000014.7:g.76822908T>G	NCBI36
NG_008897.1:g.39071A>C , LRG_844:g.39071A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.805A>C	ENSP00000451967.2:p.Asn269His
ENST00000682247.1:c.1264A>C	ENSP00000507213.1:p.Asn422His
ENST00000682382.1:c.836A>C
ENST00000682395.1:n.1442A>C
ENST00000682459.1:n.967A>C
ENST00000682467.1:c.1264A>C	ENSP00000508062.1:p.Asn422His
ENST00000682706.1:n.41A>C
ENST00000682795.1:c.1264A>C	ENSP00000507574.1:p.Asn422His
ENST00000682895.1:n.980A>C
ENST00000682955.1:n.552A>C
ENST00000683188.1:c.1239A>C
ENST00000683328.1:c.257A>C	ENSP00000508096.1:n.257A>C
ENST00000683380.1:n.928A>C
ENST00000683828.1:c.973A>C
ENST00000684259.1:n.1115A>C
ENST00000684444.1:c.11A>C
ENST00000684549.1:n.815A>C
ENST00000261534.9:c.1264A>C MANE Select	ENSP00000261534.4:p.Asn422His
ENST00000261534.8:c.1264A>C	ENSP00000261534.4:p.Asn422His
ENST00000452340.7:n.1287A>C
ENST00000553880.5:n.135A>C
ENST00000554767.5:n.2050A>C
ENST00000554884.5:n.256A>C
ENST00000556404.1:n.398A>C
ENST00000556851.1:n.300A>C
ENST00000557675.5:n.354A>C
NM_013382.5:c.1264A>C , LRG_844t1:c.1264A>C	NP_037514.2:p.Asn422His
XM_011536675.1:c.1264A>C	XP_011534977.1:p.Asn422His
XM_011536676.1:c.931A>C	XP_011534978.1:p.Asn311His
XM_011536677.1:c.805A>C	XP_011534979.1:p.Asn269His
XM_011536678.1:c.1264A>C	XP_011534980.1:p.Asn422His
XM_011536679.1:c.358A>C	XP_011534981.1:p.Asn120His
XR_943416.1:n.1467A>C
XM_011536675.2:c.1264A>C	XP_011534977.1:p.Asn422His
XM_011536676.2:c.931A>C	XP_011534978.1:p.Asn311His
XM_011536677.3:c.805A>C	XP_011534979.1:p.Asn269His
XR_001750279.1:n.1464A>C
XR_001750282.1:n.1917A>C
XR_943416.3:n.1465A>C
NM_013382.6:c.1264A>C	NP_037514.2:p.Asn422His
NM_013382.7:c.1264A>C MANE Select	NP_037514.2:p.Asn422His