Canonical Allele Identifier: CA3274892

Gene: ACTBL2

Linked Data

• ClinVar Variation Id: 730552
• ClinVar RCV Id: RCV000905367
• dbSNP Id: rs141539012
• ExAC: 5:56778481 G / A
• gnomAD v2: 5-56778481-G-A
• gnomAD v3: 5-57482654-G-A
• gnomAD v4: 5-57482654-G-A
• MyVariant Identifiers: chr5:g.56778481G>A (hg19) ; chr5:g.57482654G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.57482654G>A , CM000667.2:g.57482654G>A	GRCh38
NC_000005.9:g.56778481G>A , CM000667.1:g.56778481G>A	GRCh37
NC_000005.8:g.56814238G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423391.3:c.54C>T MANE Select	ENSP00000416706.1:p.Cys18=
ENST00000423391.2:c.54C>T	ENSP00000416706.1:p.Cys18=
NM_001017992.3:c.54C>T	NP_001017992.1:p.Cys18=
NM_001017992.4:c.54C>T MANE Select	NP_001017992.1:p.Cys18=