Canonical Allele Identifier: CA338853

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 216494
• ClinVar RCV Id: RCV000199774 ; RCV002503782
• dbSNP Id: rs863224691
• gnomAD v4: 1-236762587-T-C
• MyVariant Identifiers: chr1:g.236925887T>C (hg19) ; chr1:g.236762587T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762587T>C , CM000663.2:g.236762587T>C	GRCh38
NC_000001.10:g.236925887T>C , CM000663.1:g.236925887T>C	GRCh37
NC_000001.9:g.234992510T>C	NCBI36
NG_009081.1:g.81118T>C
NG_009081.2:g.103447T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2653T>C	ENSP00000443495.1:p.Ser885Pro
ENST00000461367.2:n.949T>C
ENST00000492634.7:n.2583T>C
ENST00000682015.1:c.2560T>C	ENSP00000506961.1:p.Ser854Pro
ENST00000682490.1:n.571T>C
ENST00000682692.1:n.3748T>C
ENST00000682966.1:n.8294T>C
ENST00000683111.1:c.*1939T>C	ENSP00000507913.1:n.*1939T>C
ENST00000683322.1:n.4005T>C
ENST00000683805.1:n.1444T>C
ENST00000684050.1:n.5291T>C
ENST00000684122.1:n.2087T>C
ENST00000684286.1:n.4208T>C
ENST00000684502.1:n.3950T>C
ENST00000684763.1:n.1268T>C
ENST00000366578.6:c.2653T>C MANE Select	ENSP00000355537.4:p.Ser885Pro
ENST00000492634.6:n.2583T>C
ENST00000542672.6:c.2653T>C	ENSP00000443495.1:p.Ser885Pro
ENST00000651091.1:c.2343T>C	ENSP00000498677.1:n.2343T>C
ENST00000651275.1:c.2545T>C	ENSP00000498926.1:p.Ser849Pro
ENST00000651781.1:c.1733T>C
ENST00000651786.1:c.*2025T>C	ENSP00000498364.1:n.*2025T>C
ENST00000652096.1:c.*2058T>C	ENSP00000498896.1:n.*2058T>C
ENST00000366578.5:c.2653T>C	ENSP00000355537.4:p.Ser885Pro
ENST00000542672.5:c.2653T>C	ENSP00000443495.1:p.Ser885Pro
ENST00000546208.5:c.2029T>C	ENSP00000438384.2:p.Ser677Pro
NM_001103.3:c.2653T>C	NP_001094.1:p.Ser885Pro
NM_001278343.1:c.2653T>C	NP_001265272.1:p.Ser885Pro
NM_001278344.1:c.2029T>C	NP_001265273.1:p.Ser677Pro
NM_001278343.2:c.2653T>C	NP_001265272.1:p.Ser885Pro
NM_001103.4:c.2653T>C MANE Select	NP_001094.1:p.Ser885Pro
NM_001278344.2:c.2029T>C	NP_001265273.1:p.Ser677Pro