Canonical Allele Identifier: CA2319014

Gene: ACVR2B

Linked Data

• dbSNP Id: rs552934349
• ExAC: 3:38523876 A / C
• gnomAD v2: 3-38523876-A-C
• gnomAD v3: 3-38482385-A-C
• gnomAD v4: 3-38482385-A-C
• MyVariant Identifiers: chr3:g.38523876A>C (hg19) ; chr3:g.38482385A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482385A>C , CM000665.2:g.38482385A>C	GRCh38
NC_000003.11:g.38523876A>C , CM000665.1:g.38523876A>C	GRCh37
NC_000003.10:g.38498880A>C	NCBI36
NG_011791.1:g.33087A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.1214-45A>C MANE Select	ENSP00000340361.3:n.1214-45A>C
ENST00000352511.4:c.1214-45A>C	ENSP00000340361.3:n.1214-45A>C
ENST00000461232.1:n.5003-45A>C
ENST00000465020.5:n.1300-45A>C
NM_001106.3:c.1214-45A>C	NP_001097.2:n.1214-45A>C
XM_005265583.2:c.1277-45A>C	XP_005265640.1:n.1277-45A>C
XM_005265583.3:c.1277-45A>C	XP_005265640.1:n.1277-45A>C
XM_017007514.1:c.1256-45A>C	XP_016863003.1:n.1256-45A>C
XM_017007515.2:c.1232-45A>C	XP_016863004.1:n.1232-45A>C
XM_017007516.1:c.1211-45A>C	XP_016863005.1:n.1211-45A>C
NM_001106.4:c.1214-45A>C MANE Select	NP_001097.2:n.1214-45A>C