Canonical Allele Identifier: CA2318795

Gene: ACVR2B

Linked Data

• ClinVar Variation Id: 414875
• ClinVar RCV Id: RCV002525660
• dbSNP Id: rs374269276
• ExAC: 3:38519623 G / C
• gnomAD v2: 3-38519623-G-C
• gnomAD v3: 3-38478132-G-C
• gnomAD v4: 3-38478132-G-C
• MyVariant Identifiers: chr3:g.38519623G>C (hg19) ; chr3:g.38478132G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38478132G>C , CM000665.2:g.38478132G>C	GRCh38
NC_000003.11:g.38519623G>C , CM000665.1:g.38519623G>C	GRCh37
NC_000003.10:g.38494627G>C	NCBI36
NG_011791.1:g.28834G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.371-9G>C MANE Select	ENSP00000340361.3:n.371-9G>C
ENST00000352511.4:c.371-9G>C	ENSP00000340361.3:n.371-9G>C
ENST00000461232.1:n.4160-9G>C
ENST00000465020.5:n.375-9G>C
NM_001106.3:c.371-9G>C	NP_001097.2:n.371-9G>C
XM_005265583.2:c.434-9G>C	XP_005265640.1:n.434-9G>C
XM_005265583.3:c.434-9G>C	XP_005265640.1:n.434-9G>C
XM_017007514.1:c.413-9G>C	XP_016863003.1:n.413-9G>C
XM_017007515.2:c.389-9G>C	XP_016863004.1:n.389-9G>C
XM_017007516.1:c.368-9G>C	XP_016863005.1:n.368-9G>C
NM_001106.4:c.371-9G>C MANE Select	NP_001097.2:n.371-9G>C