Canonical Allele Identifier: CA352134831

Gene: ACVR2B

Linked Data

• MyVariant Identifiers: chr3:g.38523975C>G (hg19) ; chr3:g.38482484C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482484C>G , CM000665.2:g.38482484C>G	GRCh38
NC_000003.11:g.38523975C>G , CM000665.1:g.38523975C>G	GRCh37
NC_000003.10:g.38498979C>G	NCBI36
NG_011791.1:g.33186C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1268C>G MANE Select	ENSP00000340361.3:p.Ser423Trp
ENST00000352511.4:c.1268C>G	ENSP00000340361.3:p.Ser423Trp
ENST00000461232.1:n.5057C>G
ENST00000465020.5:n.1354C>G
NM_001106.3:c.1268C>G	NP_001097.2:p.Ser423Trp
XM_005265583.2:c.1331C>G	XP_005265640.1:p.Ser444Trp
XM_005265583.3:c.1331C>G	XP_005265640.1:p.Ser444Trp
XM_017007514.1:c.1310C>G	XP_016863003.1:p.Ser437Trp
XM_017007515.2:c.1286C>G	XP_016863004.1:p.Ser429Trp
XM_017007516.1:c.1265C>G	XP_016863005.1:p.Ser422Trp
NM_001106.4:c.1268C>G MANE Select	NP_001097.2:p.Ser423Trp