Canonical Allele Identifier: CA5700263

Gene: VWA2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.114261198G>A , CM000672.2:g.114261198G>A	GRCh38
NC_000010.10:g.116020957G>A , CM000672.1:g.116020957G>A	GRCh37
NC_000010.9:g.116010947G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001272046.2:c.274G>A MANE Select	NP_001258975.1:p.Ala92Thr
ENST00000392982.8:c.274G>A MANE Select	ENSP00000376708.3:p.Ala92Thr
NM_001272046.1:c.274G>A	NP_001258975.1:p.Ala92Thr
NM_001320804.1:c.274G>A	NP_001307733.1:p.Ala92Thr
ENST00000298715.8:n.524G>A
ENST00000392982.7:c.274G>A	ENSP00000376708.3:p.Ala92Thr
ENST00000603594.2:c.-643G>A	ENSP00000473752.2:n.-643G>A
XM_011539754.1:c.158G>A	XP_011538056.1:p.Ser53Asn
XM_011539754.2:c.158G>A	XP_011538056.1:p.Ser53Asn
XM_011539755.1:c.274G>A	XP_011538057.1:p.Ala92Thr
XM_011539756.1:c.274G>A	XP_011538058.1:p.Ala92Thr
XM_011539757.1:c.274G>A	XP_011538059.1:p.Ala92Thr
XM_011539758.1:c.140G>A	XP_011538060.1:p.Ser47Asn
XM_011539761.1:c.158G>A	XP_011538063.1:p.Ser53Asn
XM_011539762.1:c.-643G>A	XP_011538064.1:n.-643G>A
XM_011539763.1:c.158G>A	XP_011538065.1:p.Ser53Asn
XM_017016177.1:c.304G>A	XP_016871666.1:p.Ala102Thr
XM_017016178.1:c.170G>A	XP_016871667.1:p.Ser57Asn
XM_017016179.2:c.292G>A	XP_016871668.1:p.Ala98Thr
XM_017016181.1:c.304G>A	XP_016871670.1:p.Ala102Thr
XR_945723.1:n.600G>A