Canonical Allele Identifier: CA352134677

Gene: ACVR2B

Linked Data

• MyVariant Identifiers: chr3:g.38523819C>T (hg19) ; chr3:g.38482328C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482328C>T , CM000665.2:g.38482328C>T	GRCh38
NC_000003.11:g.38523819C>T , CM000665.1:g.38523819C>T	GRCh37
NC_000003.10:g.38498823C>T	NCBI36
NG_011791.1:g.33030C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1205C>T MANE Select	ENSP00000340361.3:p.Ala402Val
ENST00000352511.4:c.1205C>T	ENSP00000340361.3:p.Ala402Val
ENST00000461232.1:n.4994C>T
ENST00000465020.5:n.1291C>T
NM_001106.3:c.1205C>T	NP_001097.2:p.Ala402Val
XM_005265583.2:c.1268C>T	XP_005265640.1:p.Ala423Val
XM_005265583.3:c.1268C>T	XP_005265640.1:p.Ala423Val
XM_017007514.1:c.1247C>T	XP_016863003.1:p.Ala416Val
XM_017007515.2:c.1223C>T	XP_016863004.1:p.Ala408Val
XM_017007516.1:c.1202C>T	XP_016863005.1:p.Ala401Val
NM_001106.4:c.1205C>T MANE Select	NP_001097.2:p.Ala402Val