Canonical Allele Identifier: CA390517687

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753113G>T (hg19) ; chr14:g.77286770G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286770G>T , CM000676.2:g.77286770G>T	GRCh38
NC_000014.8:g.77753113G>T , CM000676.1:g.77753113G>T	GRCh37
NC_000014.7:g.76822866G>T	NCBI36
NG_008897.1:g.39113C>A , LRG_844:g.39113C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.847C>A	ENSP00000451967.2:p.His283Asn
ENST00000682247.1:c.1306C>A	ENSP00000507213.1:p.His436Asn
ENST00000682382.1:c.878C>A
ENST00000682395.1:n.1484C>A
ENST00000682459.1:n.1009C>A
ENST00000682467.1:c.1306C>A	ENSP00000508062.1:p.His436Asn
ENST00000682706.1:n.83C>A
ENST00000682795.1:c.1306C>A	ENSP00000507574.1:p.His436Asn
ENST00000682895.1:n.1022C>A
ENST00000682955.1:n.594C>A
ENST00000683188.1:c.1281C>A
ENST00000683328.1:c.299C>A	ENSP00000508096.1:n.299C>A
ENST00000683380.1:n.970C>A
ENST00000683828.1:c.1015C>A
ENST00000684259.1:n.1157C>A
ENST00000684444.1:c.53C>A
ENST00000684549.1:n.857C>A
ENST00000261534.9:c.1306C>A MANE Select	ENSP00000261534.4:p.His436Asn
ENST00000261534.8:c.1306C>A	ENSP00000261534.4:p.His436Asn
ENST00000452340.7:n.1329C>A
ENST00000553880.5:n.177C>A
ENST00000554767.5:n.2092C>A
ENST00000554884.5:n.298C>A
ENST00000556404.1:n.440C>A
ENST00000556851.1:n.342C>A
ENST00000557675.5:n.396C>A
NM_013382.5:c.1306C>A , LRG_844t1:c.1306C>A	NP_037514.2:p.His436Asn
XM_011536675.1:c.1306C>A	XP_011534977.1:p.His436Asn
XM_011536676.1:c.973C>A	XP_011534978.1:p.His325Asn
XM_011536677.1:c.847C>A	XP_011534979.1:p.His283Asn
XM_011536678.1:c.1306C>A	XP_011534980.1:p.His436Asn
XM_011536679.1:c.400C>A	XP_011534981.1:p.His134Asn
XR_943416.1:n.1509C>A
XM_011536675.2:c.1306C>A	XP_011534977.1:p.His436Asn
XM_011536676.2:c.973C>A	XP_011534978.1:p.His325Asn
XM_011536677.3:c.847C>A	XP_011534979.1:p.His283Asn
XR_001750279.1:n.1506C>A
XR_001750282.1:n.1959C>A
XR_943416.3:n.1507C>A
NM_013382.6:c.1306C>A	NP_037514.2:p.His436Asn
NM_013382.7:c.1306C>A MANE Select	NP_037514.2:p.His436Asn