Canonical Allele Identifier: CA2665095673

Gene: ACVR2B

Linked Data

• gnomAD v4: 3-38482342-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482342T>C , CM000665.2:g.38482342T>C	GRCh38
NC_000003.11:g.38523833T>C , CM000665.1:g.38523833T>C	GRCh37
NC_000003.10:g.38498837T>C	NCBI36
NG_011791.1:g.33044T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1213+6T>C MANE Select	ENSP00000340361.3:n.1213+6T>C
ENST00000352511.4:c.1213+6T>C	ENSP00000340361.3:n.1213+6T>C
ENST00000461232.1:n.5002+6T>C
ENST00000465020.5:n.1299+6T>C
NM_001106.3:c.1213+6T>C	NP_001097.2:n.1213+6T>C
XM_005265583.2:c.1276+6T>C	XP_005265640.1:n.1276+6T>C
XM_005265583.3:c.1276+6T>C	XP_005265640.1:n.1276+6T>C
XM_017007514.1:c.1255+6T>C	XP_016863003.1:n.1255+6T>C
XM_017007515.2:c.1231+6T>C	XP_016863004.1:n.1231+6T>C
XM_017007516.1:c.1210+6T>C	XP_016863005.1:n.1210+6T>C
NM_001106.4:c.1213+6T>C MANE Select	NP_001097.2:n.1213+6T>C