Canonical Allele Identifier: CA1473507

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1794387
• ClinVar RCV Id: RCV002453102
• dbSNP Id: rs371271055
• ExAC: 1:236925890 T / C
• gnomAD v2: 1-236925890-T-C
• gnomAD v3: 1-236762590-T-C
• gnomAD v4: 1-236762590-T-C
• MyVariant Identifiers: chr1:g.236925890T>C (hg19) ; chr1:g.236762590T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762590T>C , CM000663.2:g.236762590T>C	GRCh38
NC_000001.10:g.236925890T>C , CM000663.1:g.236925890T>C	GRCh37
NC_000001.9:g.234992513T>C	NCBI36
NG_009081.1:g.81121T>C
NG_009081.2:g.103450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2656T>C	ENSP00000443495.1:p.Ser886Pro
ENST00000461367.2:n.952T>C
ENST00000492634.7:n.2586T>C
ENST00000682015.1:c.2563T>C	ENSP00000506961.1:p.Ser855Pro
ENST00000682490.1:n.574T>C
ENST00000682692.1:n.3751T>C
ENST00000682966.1:n.8297T>C
ENST00000683111.1:c.*1942T>C	ENSP00000507913.1:n.*1942T>C
ENST00000683322.1:n.4008T>C
ENST00000683805.1:n.1447T>C
ENST00000684050.1:n.5294T>C
ENST00000684122.1:n.2090T>C
ENST00000684286.1:n.4211T>C
ENST00000684502.1:n.3953T>C
ENST00000684763.1:n.1271T>C
ENST00000366578.6:c.2656T>C MANE Select	ENSP00000355537.4:p.Ser886Pro
ENST00000492634.6:n.2586T>C
ENST00000542672.6:c.2656T>C	ENSP00000443495.1:p.Ser886Pro
ENST00000651091.1:c.2346T>C	ENSP00000498677.1:n.2346T>C
ENST00000651275.1:c.2548T>C	ENSP00000498926.1:p.Ser850Pro
ENST00000651781.1:c.1736T>C
ENST00000651786.1:c.*2028T>C	ENSP00000498364.1:n.*2028T>C
ENST00000652096.1:c.*2061T>C	ENSP00000498896.1:n.*2061T>C
ENST00000366578.5:c.2656T>C	ENSP00000355537.4:p.Ser886Pro
ENST00000542672.5:c.2656T>C	ENSP00000443495.1:p.Ser886Pro
ENST00000546208.5:c.2032T>C	ENSP00000438384.2:p.Ser678Pro
NM_001103.3:c.2656T>C	NP_001094.1:p.Ser886Pro
NM_001278343.1:c.2656T>C	NP_001265272.1:p.Ser886Pro
NM_001278344.1:c.2032T>C	NP_001265273.1:p.Ser678Pro
NM_001278343.2:c.2656T>C	NP_001265272.1:p.Ser886Pro
NM_001103.4:c.2656T>C MANE Select	NP_001094.1:p.Ser886Pro
NM_001278344.2:c.2032T>C	NP_001265273.1:p.Ser678Pro