Canonical Allele Identifier: CA345392615

Gene: ACTN2

Linked Data

• dbSNP Id: rs1176935092
• gnomAD v2: 1-236925884-T-C
• gnomAD v4: 1-236762584-T-C
• MyVariant Identifiers: chr1:g.236925884T>C (hg19) ; chr1:g.236762584T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762584T>C , CM000663.2:g.236762584T>C	GRCh38
NC_000001.10:g.236925884T>C , CM000663.1:g.236925884T>C	GRCh37
NC_000001.9:g.234992507T>C	NCBI36
NG_009081.1:g.81115T>C
NG_009081.2:g.103444T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2650T>C	ENSP00000443495.1:p.Phe884Leu
ENST00000461367.2:n.946T>C
ENST00000492634.7:n.2580T>C
ENST00000682015.1:c.2557T>C	ENSP00000506961.1:p.Phe853Leu
ENST00000682490.1:n.568T>C
ENST00000682692.1:n.3745T>C
ENST00000682966.1:n.8291T>C
ENST00000683111.1:c.*1936T>C	ENSP00000507913.1:n.*1936T>C
ENST00000683322.1:n.4002T>C
ENST00000683805.1:n.1441T>C
ENST00000684050.1:n.5288T>C
ENST00000684122.1:n.2084T>C
ENST00000684286.1:n.4205T>C
ENST00000684502.1:n.3947T>C
ENST00000684763.1:n.1265T>C
ENST00000366578.6:c.2650T>C MANE Select	ENSP00000355537.4:p.Phe884Leu
ENST00000492634.6:n.2580T>C
ENST00000542672.6:c.2650T>C	ENSP00000443495.1:p.Phe884Leu
ENST00000651091.1:c.2340T>C	ENSP00000498677.1:n.2340T>C
ENST00000651275.1:c.2542T>C	ENSP00000498926.1:p.Phe848Leu
ENST00000651781.1:c.1730T>C
ENST00000651786.1:c.*2022T>C	ENSP00000498364.1:n.*2022T>C
ENST00000652096.1:c.*2055T>C	ENSP00000498896.1:n.*2055T>C
ENST00000366578.5:c.2650T>C	ENSP00000355537.4:p.Phe884Leu
ENST00000542672.5:c.2650T>C	ENSP00000443495.1:p.Phe884Leu
ENST00000546208.5:c.2026T>C	ENSP00000438384.2:p.Phe676Leu
NM_001103.3:c.2650T>C	NP_001094.1:p.Phe884Leu
NM_001278343.1:c.2650T>C	NP_001265272.1:p.Phe884Leu
NM_001278344.1:c.2026T>C	NP_001265273.1:p.Phe676Leu
NM_001278343.2:c.2650T>C	NP_001265272.1:p.Phe884Leu
NM_001103.4:c.2650T>C MANE Select	NP_001094.1:p.Phe884Leu
NM_001278344.2:c.2026T>C	NP_001265273.1:p.Phe676Leu