Canonical Allele Identifier: CA11498327

Gene: ACVR2B

Linked Data

• dbSNP Id: rs2268757
• gnomAD v2: 3-38505853-C-T
• gnomAD v3: 3-38464362-C-T
• gnomAD v4: 3-38464362-C-T
• MyVariant Identifiers: chr3:g.38505853C>T (hg19) ; chr3:g.38464362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38464362C>T , CM000665.2:g.38464362C>T	GRCh38
NC_000003.11:g.38505853C>T , CM000665.1:g.38505853C>T	GRCh37
NC_000003.10:g.38480857C>T	NCBI36
NG_011791.1:g.15064C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.52+9988C>T MANE Select	ENSP00000340361.3:n.52+9988C>T
ENST00000352511.4:c.52+9988C>T	ENSP00000340361.3:n.52+9988C>T
ENST00000465020.5:n.56+9988C>T
NM_001106.3:c.52+9988C>T	NP_001097.2:n.52+9988C>T
XM_005265583.2:c.115+4673C>T	XP_005265640.1:n.115+4673C>T
XM_005265583.3:c.115+4673C>T	XP_005265640.1:n.115+4673C>T
XM_017007514.1:c.94+4694C>T	XP_016863003.1:n.94+4694C>T
XM_017007515.2:c.70+9678C>T	XP_016863004.1:n.70+9678C>T
NM_001106.4:c.52+9988C>T MANE Select	NP_001097.2:n.52+9988C>T