Canonical Allele Identifier: CA2319029

Gene: ACVR2B

Linked Data

• dbSNP Id: rs145005293
• ExAC: 3:38523925 C / T
• gnomAD v2: 3-38523925-C-T
• gnomAD v3: 3-38482434-C-T
• gnomAD v4: 3-38482434-C-T
• MyVariant Identifiers: chr3:g.38523925C>T (hg19) ; chr3:g.38482434C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482434C>T , CM000665.2:g.38482434C>T	GRCh38
NC_000003.11:g.38523925C>T , CM000665.1:g.38523925C>T	GRCh37
NC_000003.10:g.38498929C>T	NCBI36
NG_011791.1:g.33136C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1218C>T MANE Select	ENSP00000340361.3:p.Pro406=
ENST00000352511.4:c.1218C>T	ENSP00000340361.3:p.Pro406=
ENST00000461232.1:n.5007C>T
ENST00000465020.5:n.1304C>T
NM_001106.3:c.1218C>T	NP_001097.2:p.Pro406=
XM_005265583.2:c.1281C>T	XP_005265640.1:p.Pro427=
XM_005265583.3:c.1281C>T	XP_005265640.1:p.Pro427=
XM_017007514.1:c.1260C>T	XP_016863003.1:p.Pro420=
XM_017007515.2:c.1236C>T	XP_016863004.1:p.Pro412=
XM_017007516.1:c.1215C>T	XP_016863005.1:p.Pro405=
NM_001106.4:c.1218C>T MANE Select	NP_001097.2:p.Pro406=