Canonical Allele Identifier: CA2319041

Gene: ACVR2B

Linked Data

• ClinVar Variation Id: 414876
• ClinVar RCV Id: RCV000470660 ; RCV003437215
• dbSNP Id: rs146067304
• ExAC: 3:38523976 G / A
• gnomAD v2: 3-38523976-G-A
• gnomAD v3: 3-38482485-G-A
• gnomAD v4: 3-38482485-G-A
• MyVariant Identifiers: chr3:g.38523976G>A (hg19) ; chr3:g.38482485G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482485G>A , CM000665.2:g.38482485G>A	GRCh38
NC_000003.11:g.38523976G>A , CM000665.1:g.38523976G>A	GRCh37
NC_000003.10:g.38498980G>A	NCBI36
NG_011791.1:g.33187G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.1269G>A MANE Select	ENSP00000340361.3:p.Ser423=
ENST00000352511.4:c.1269G>A	ENSP00000340361.3:p.Ser423=
ENST00000461232.1:n.5058G>A
ENST00000465020.5:n.1355G>A
NM_001106.3:c.1269G>A	NP_001097.2:p.Ser423=
XM_005265583.2:c.1332G>A	XP_005265640.1:p.Ser444=
XM_005265583.3:c.1332G>A	XP_005265640.1:p.Ser444=
XM_017007514.1:c.1311G>A	XP_016863003.1:p.Ser437=
XM_017007515.2:c.1287G>A	XP_016863004.1:p.Ser429=
XM_017007516.1:c.1266G>A	XP_016863005.1:p.Ser422=
NM_001106.4:c.1269G>A MANE Select	NP_001097.2:p.Ser423=