Canonical Allele Identifier: CA2318921
Gene: ACVR2B HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.38479666G>A
GRCh37 chr3:g.38521157G>A
gnomAD v2:
3:38521157 G / A
gnomAD v3:
3:38479666 G / A
gnomAD v4:
chr3-38479666-G-A
Joint Max Group AF 0.00426542 (NFE)
Genomes Max Group AF 0.00412456 (NFE)
Exomes Max Group AF 0.00425133 (NFE)
ClinVar Allele:
251102
ClinVar RCV:
RCV000253984
RCV000624993
ClinVar Variation:
257469
dbSNP:
144849143
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38479666G>A , CM000665.2:g.38479666G>A GRCh38
NC_000003.11:g.38521157G>A , CM000665.1:g.38521157G>A GRCh37
NC_000003.10:g.38496161G>A NCBI36
NG_011791.1:g.30368G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352511.5:c.811-12G>A MANE Select ENSP00000340361.3:n.811-12G>A
ENST00000352511.4:c.811-12G>A ENSP00000340361.3:n.811-12G>A
ENST00000461232.1:n.4600-12G>A
ENST00000465020.5:n.897-12G>A
NM_001106.3:c.811-12G>A NP_001097.2:n.811-12G>A
XM_005265583.2:c.874-12G>A XP_005265640.1:n.874-12G>A
XM_005265583.3:c.874-12G>A XP_005265640.1:n.874-12G>A
XM_017007514.1:c.853-12G>A XP_016863003.1:n.853-12G>A
XM_017007515.2:c.829-12G>A XP_016863004.1:n.829-12G>A
XM_017007516.1:c.808-12G>A XP_016863005.1:n.808-12G>A
NM_001106.4:c.811-12G>A MANE Select NP_001097.2:n.811-12G>A
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