Canonical Allele Identifier: CA529912424

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 506997
• ClinVar RCV Id: RCV000608774 ; RCV002529399
• dbSNP Id: rs1486613146
• gnomAD v2: 1-236925743-G-A
• gnomAD v3: 1-236762443-G-A
• gnomAD v4: 1-236762443-G-A
• MyVariant Identifiers: chr1:g.236925743G>A (hg19) ; chr1:g.236762443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762443G>A , CM000663.2:g.236762443G>A	GRCh38
NC_000001.10:g.236925743G>A , CM000663.1:g.236925743G>A	GRCh37
NC_000001.9:g.234992366G>A	NCBI36
NG_009081.1:g.80974G>A
NG_009081.2:g.103303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2527-18G>A	ENSP00000443495.1:n.2527-18G>A
ENST00000461367.2:n.823-18G>A
ENST00000492634.7:n.2457-18G>A
ENST00000682015.1:c.2434-18G>A	ENSP00000506961.1:n.2434-18G>A
ENST00000682490.1:n.445-18G>A
ENST00000682692.1:n.3622-18G>A
ENST00000682966.1:n.8168-18G>A
ENST00000683111.1:c.*1813-18G>A	ENSP00000507913.1:n.*1813-18G>A
ENST00000683322.1:n.3879-18G>A
ENST00000683805.1:n.1318-18G>A
ENST00000684050.1:n.5165-18G>A
ENST00000684122.1:n.1943G>A
ENST00000684286.1:n.4082-18G>A
ENST00000684502.1:n.3824-18G>A
ENST00000684763.1:n.1142-18G>A
ENST00000366578.6:c.2527-18G>A MANE Select	ENSP00000355537.4:n.2527-18G>A
ENST00000492634.6:n.2457-18G>A
ENST00000542672.6:c.2527-18G>A	ENSP00000443495.1:n.2527-18G>A
ENST00000651091.1:c.2217-18G>A	ENSP00000498677.1:n.2217-18G>A
ENST00000651275.1:c.2419-18G>A	ENSP00000498926.1:n.2419-18G>A
ENST00000651781.1:c.1607-18G>A
ENST00000651786.1:c.*1899-18G>A	ENSP00000498364.1:n.*1899-18G>A
ENST00000652096.1:c.*1932-18G>A	ENSP00000498896.1:n.*1932-18G>A
ENST00000366578.5:c.2527-18G>A	ENSP00000355537.4:n.2527-18G>A
ENST00000461367.1:n.736-18G>A
ENST00000542672.5:c.2527-18G>A	ENSP00000443495.1:n.2527-18G>A
ENST00000546208.5:c.1903-18G>A	ENSP00000438384.2:n.1903-18G>A
NM_001103.3:c.2527-18G>A	NP_001094.1:n.2527-18G>A
NM_001278343.1:c.2527-18G>A	NP_001265272.1:n.2527-18G>A
NM_001278344.1:c.1903-18G>A	NP_001265273.1:n.1903-18G>A
NM_001278343.2:c.2527-18G>A	NP_001265272.1:n.2527-18G>A
NM_001103.4:c.2527-18G>A MANE Select	NP_001094.1:n.2527-18G>A
NM_001278344.2:c.1903-18G>A	NP_001265273.1:n.1903-18G>A