Canonical Allele Identifier: CA2318691

Gene: ACVR2B

Linked Data

• dbSNP Id: rs767920458
• ExAC: 3:38518738 CA / C
• gnomAD v2: 3-38518738-CA-C
• gnomAD v3: 3-38477247-CA-C
• gnomAD v4: 3-38477247-CA-C
• MyVariant Identifiers: chr3:g.38518739del (hg19) ; chr3:g.38477248del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38477248del , CM000665.2:g.38477248del	GRCh38
NC_000003.11:g.38518739del , CM000665.1:g.38518739del	GRCh37
NC_000003.10:g.38493743del	NCBI36
NG_011791.1:g.27950del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.53-39del MANE Select	ENSP00000340361.3:n.53-39del
ENST00000352511.4:c.53-39del	ENSP00000340361.3:n.53-39del
ENST00000461232.1:n.3803del
ENST00000465020.5:n.57-39del
NM_001106.3:c.53-39del	NP_001097.2:n.53-39del
XM_005265583.2:c.116-39del	XP_005265640.1:n.116-39del
XM_005265583.3:c.116-39del	XP_005265640.1:n.116-39del
XM_017007514.1:c.95-39del	XP_016863003.1:n.95-39del
XM_017007515.2:c.71-39del	XP_016863004.1:n.71-39del
XM_017007516.1:c.50-39del	XP_016863005.1:n.50-39del
NM_001106.4:c.53-39del MANE Select	NP_001097.2:n.53-39del