Canonical Allele Identifier: CA335020
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 201635
ClinVar RCV Id: RCV000183254
dbSNP Id: rs794728966
MyVariant Identifiers: chr1:g.236925760G>A (hg19) chr1:g.236762460G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236762460G>A , CM000663.2:g.236762460G>A GRCh38
NC_000001.10:g.236925760G>A , CM000663.1:g.236925760G>A GRCh37
NC_000001.9:g.234992383G>A NCBI36
NG_009081.1:g.80991G>A
NG_009081.2:g.103320G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000542672.7:c.2527-1G>A ENSP00000443495.1:n.2527-1G>A
ENST00000461367.2:n.823-1G>A
ENST00000492634.7:n.2457-1G>A
ENST00000682015.1:c.2434-1G>A ENSP00000506961.1:n.2434-1G>A
ENST00000682490.1:n.445-1G>A
ENST00000682692.1:n.3622-1G>A
ENST00000682966.1:n.8168-1G>A
ENST00000683111.1:c.*1813-1G>A ENSP00000507913.1:n.*1813-1G>A
ENST00000683322.1:n.3879-1G>A
ENST00000683805.1:n.1318-1G>A
ENST00000684050.1:n.5165-1G>A
ENST00000684122.1:n.1960G>A
ENST00000684286.1:n.4082-1G>A
ENST00000684502.1:n.3824-1G>A
ENST00000684763.1:n.1142-1G>A
ENST00000366578.6:c.2527-1G>A MANE Select ENSP00000355537.4:n.2527-1G>A
ENST00000492634.6:n.2457-1G>A
ENST00000542672.6:c.2527-1G>A ENSP00000443495.1:n.2527-1G>A
ENST00000651091.1:c.2217-1G>A ENSP00000498677.1:n.2217-1G>A
ENST00000651275.1:c.2419-1G>A ENSP00000498926.1:n.2419-1G>A
ENST00000651781.1:c.1607-1G>A
ENST00000651786.1:c.*1899-1G>A ENSP00000498364.1:n.*1899-1G>A
ENST00000652096.1:c.*1932-1G>A ENSP00000498896.1:n.*1932-1G>A
ENST00000366578.5:c.2527-1G>A ENSP00000355537.4:n.2527-1G>A
ENST00000461367.1:n.736-1G>A
ENST00000542672.5:c.2527-1G>A ENSP00000443495.1:n.2527-1G>A
ENST00000546208.5:c.1903-1G>A ENSP00000438384.2:n.1903-1G>A
NM_001103.3:c.2527-1G>A NP_001094.1:n.2527-1G>A
NM_001278343.1:c.2527-1G>A NP_001265272.1:n.2527-1G>A
NM_001278344.1:c.1903-1G>A NP_001265273.1:n.1903-1G>A
NM_001278343.2:c.2527-1G>A NP_001265272.1:n.2527-1G>A
NM_001103.4:c.2527-1G>A MANE Select NP_001094.1:n.2527-1G>A
NM_001278344.2:c.1903-1G>A NP_001265273.1:n.1903-1G>A
Search 100 bp 5'
Search 100 bp 3'