Canonical Allele Identifier: CA2318956

Gene: ACVR2B

Linked Data

• ClinVar Variation Id: 257471
• ClinVar RCV Id: RCV000250916 ; RCV002057445
• dbSNP Id: rs41285125
• ExAC: 3:38522823 T / C
• gnomAD v2: 3-38522823-T-C
• gnomAD v3: 3-38481332-T-C
• gnomAD v4: 3-38481332-T-C
• MyVariant Identifiers: chr3:g.38522823T>C (hg19) ; chr3:g.38481332T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38481332T>C , CM000665.2:g.38481332T>C	GRCh38
NC_000003.11:g.38522823T>C , CM000665.1:g.38522823T>C	GRCh37
NC_000003.10:g.38497827T>C	NCBI36
NG_011791.1:g.32034T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.960-19T>C MANE Select	ENSP00000340361.3:n.960-19T>C
ENST00000352511.4:c.960-19T>C	ENSP00000340361.3:n.960-19T>C
ENST00000461232.1:n.4749-19T>C
ENST00000465020.5:n.1046-19T>C
NM_001106.3:c.960-19T>C	NP_001097.2:n.960-19T>C
XM_005265583.2:c.1023-19T>C	XP_005265640.1:n.1023-19T>C
XM_005265583.3:c.1023-19T>C	XP_005265640.1:n.1023-19T>C
XM_017007514.1:c.1002-19T>C	XP_016863003.1:n.1002-19T>C
XM_017007515.2:c.978-19T>C	XP_016863004.1:n.978-19T>C
XM_017007516.1:c.957-19T>C	XP_016863005.1:n.957-19T>C
NM_001106.4:c.960-19T>C MANE Select	NP_001097.2:n.960-19T>C