Canonical Allele Identifier: CA352134829

Gene: ACVR2B

Linked Data

• MyVariant Identifiers: chr3:g.38523974T>G (hg19) ; chr3:g.38482483T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38482483T>G , CM000665.2:g.38482483T>G	GRCh38
NC_000003.11:g.38523974T>G , CM000665.1:g.38523974T>G	GRCh37
NC_000003.10:g.38498978T>G	NCBI36
NG_011791.1:g.33185T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352511.5:c.1267T>G MANE Select	ENSP00000340361.3:p.Ser423Ala
ENST00000352511.4:c.1267T>G	ENSP00000340361.3:p.Ser423Ala
ENST00000461232.1:n.5056T>G
ENST00000465020.5:n.1353T>G
NM_001106.3:c.1267T>G	NP_001097.2:p.Ser423Ala
XM_005265583.2:c.1330T>G	XP_005265640.1:p.Ser444Ala
XM_005265583.3:c.1330T>G	XP_005265640.1:p.Ser444Ala
XM_017007514.1:c.1309T>G	XP_016863003.1:p.Ser437Ala
XM_017007515.2:c.1285T>G	XP_016863004.1:p.Ser429Ala
XM_017007516.1:c.1264T>G	XP_016863005.1:p.Ser422Ala
NM_001106.4:c.1267T>G MANE Select	NP_001097.2:p.Ser423Ala