Canonical Allele Identifier: CA289291

Gene: ACVR2B

Linked Data

• ClinVar Variation Id: 136290
• ClinVar RCV Id: RCV000123527 ; RCV000457393 ; RCV001573737
• dbSNP Id: rs115155428
• ExAC: 3:38523684 C / T
• gnomAD v2: 3-38523684-C-T
• gnomAD v3: 3-38482193-C-T
• gnomAD v4: 3-38482193-C-T
• MyVariant Identifiers: chr3:g.38523684C>T (hg19) ; chr3:g.38482193C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482193C>T , CM000665.2:g.38482193C>T	GRCh38
NC_000003.11:g.38523684C>T , CM000665.1:g.38523684C>T	GRCh37
NC_000003.10:g.38498688C>T	NCBI36
NG_011791.1:g.32895C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.1075-5C>T MANE Select	ENSP00000340361.3:n.1075-5C>T
ENST00000352511.4:c.1075-5C>T	ENSP00000340361.3:n.1075-5C>T
ENST00000461232.1:n.4864-5C>T
ENST00000465020.5:n.1161-5C>T
NM_001106.3:c.1075-5C>T	NP_001097.2:n.1075-5C>T
XM_005265583.2:c.1138-5C>T	XP_005265640.1:n.1138-5C>T
XM_005265583.3:c.1138-5C>T	XP_005265640.1:n.1138-5C>T
XM_017007514.1:c.1117-5C>T	XP_016863003.1:n.1117-5C>T
XM_017007515.2:c.1093-5C>T	XP_016863004.1:n.1093-5C>T
XM_017007516.1:c.1072-5C>T	XP_016863005.1:n.1072-5C>T
NM_001106.4:c.1075-5C>T MANE Select	NP_001097.2:n.1075-5C>T