Canonical Allele Identifier: CA390517753

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753143G>T (hg19) ; chr14:g.77286800G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286800G>T , CM000676.2:g.77286800G>T	GRCh38
NC_000014.8:g.77753143G>T , CM000676.1:g.77753143G>T	GRCh37
NC_000014.7:g.76822896G>T	NCBI36
NG_008897.1:g.39083C>A , LRG_844:g.39083C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.817C>A	ENSP00000451967.2:p.His273Asn
ENST00000682247.1:c.1276C>A	ENSP00000507213.1:p.His426Asn
ENST00000682382.1:c.848C>A
ENST00000682395.1:n.1454C>A
ENST00000682459.1:n.979C>A
ENST00000682467.1:c.1276C>A	ENSP00000508062.1:p.His426Asn
ENST00000682706.1:n.53C>A
ENST00000682795.1:c.1276C>A	ENSP00000507574.1:p.His426Asn
ENST00000682895.1:n.992C>A
ENST00000682955.1:n.564C>A
ENST00000683188.1:c.1251C>A
ENST00000683328.1:c.269C>A	ENSP00000508096.1:n.269C>A
ENST00000683380.1:n.940C>A
ENST00000683828.1:c.985C>A
ENST00000684259.1:n.1127C>A
ENST00000684444.1:c.23C>A
ENST00000684549.1:n.827C>A
ENST00000261534.9:c.1276C>A MANE Select	ENSP00000261534.4:p.His426Asn
ENST00000261534.8:c.1276C>A	ENSP00000261534.4:p.His426Asn
ENST00000452340.7:n.1299C>A
ENST00000553880.5:n.147C>A
ENST00000554767.5:n.2062C>A
ENST00000554884.5:n.268C>A
ENST00000556404.1:n.410C>A
ENST00000556851.1:n.312C>A
ENST00000557675.5:n.366C>A
NM_013382.5:c.1276C>A , LRG_844t1:c.1276C>A	NP_037514.2:p.His426Asn
XM_011536675.1:c.1276C>A	XP_011534977.1:p.His426Asn
XM_011536676.1:c.943C>A	XP_011534978.1:p.His315Asn
XM_011536677.1:c.817C>A	XP_011534979.1:p.His273Asn
XM_011536678.1:c.1276C>A	XP_011534980.1:p.His426Asn
XM_011536679.1:c.370C>A	XP_011534981.1:p.His124Asn
XR_943416.1:n.1479C>A
XM_011536675.2:c.1276C>A	XP_011534977.1:p.His426Asn
XM_011536676.2:c.943C>A	XP_011534978.1:p.His315Asn
XM_011536677.3:c.817C>A	XP_011534979.1:p.His273Asn
XR_001750279.1:n.1476C>A
XR_001750282.1:n.1929C>A
XR_943416.3:n.1477C>A
NM_013382.6:c.1276C>A	NP_037514.2:p.His426Asn
NM_013382.7:c.1276C>A MANE Select	NP_037514.2:p.His426Asn