Canonical Allele Identifier: CA352134893

Gene: ACVR2B

Linked Data

• gnomAD v4: 3-38482511-T-C
• MyVariant Identifiers: chr3:g.38524002T>C (hg19) ; chr3:g.38482511T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482511T>C , CM000665.2:g.38482511T>C	GRCh38
NC_000003.11:g.38524002T>C , CM000665.1:g.38524002T>C	GRCh37
NC_000003.10:g.38499006T>C	NCBI36
NG_011791.1:g.33213T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1295T>C MANE Select	ENSP00000340361.3:p.Val432Ala
ENST00000352511.4:c.1295T>C	ENSP00000340361.3:p.Val432Ala
ENST00000461232.1:n.5084T>C
ENST00000465020.5:n.1381T>C
NM_001106.3:c.1295T>C	NP_001097.2:p.Val432Ala
XM_005265583.2:c.1358T>C	XP_005265640.1:p.Val453Ala
XM_005265583.3:c.1358T>C	XP_005265640.1:p.Val453Ala
XM_017007514.1:c.1337T>C	XP_016863003.1:p.Val446Ala
XM_017007515.2:c.1313T>C	XP_016863004.1:p.Val438Ala
XM_017007516.1:c.1292T>C	XP_016863005.1:p.Val431Ala
NM_001106.4:c.1295T>C MANE Select	NP_001097.2:p.Val432Ala