Canonical Allele Identifier: CA345387780

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236755194-T-C
• MyVariant Identifiers: chr1:g.236918494T>C (hg19) ; chr1:g.236755194T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755194T>C , CM000663.2:g.236755194T>C	GRCh38
NC_000001.10:g.236918494T>C , CM000663.1:g.236918494T>C	GRCh37
NC_000001.9:g.234985117T>C	NCBI36
NG_009081.1:g.73725T>C
NG_009081.2:g.96054T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2150T>C	ENSP00000443495.1:p.Met717Thr
ENST00000461367.2:n.446T>C
ENST00000492634.7:n.2080T>C
ENST00000682015.1:c.2057T>C	ENSP00000506961.1:p.Met686Thr
ENST00000682692.1:n.3245T>C
ENST00000682966.1:n.7791T>C
ENST00000683111.1:c.*1436T>C	ENSP00000507913.1:n.*1436T>C
ENST00000683322.1:n.3502T>C
ENST00000683805.1:n.941T>C
ENST00000684050.1:n.4788T>C
ENST00000684122.1:n.297T>C
ENST00000684286.1:n.3705T>C
ENST00000684502.1:n.3447T>C
ENST00000684763.1:n.765T>C
ENST00000366578.6:c.2150T>C MANE Select	ENSP00000355537.4:p.Met717Thr
ENST00000492634.6:n.2080T>C
ENST00000542672.6:c.2150T>C	ENSP00000443495.1:p.Met717Thr
ENST00000651091.1:c.1840T>C	ENSP00000498677.1:n.1840T>C
ENST00000651275.1:c.2042T>C	ENSP00000498926.1:p.Met681Thr
ENST00000651781.1:c.1230T>C
ENST00000651786.1:c.*1522T>C	ENSP00000498364.1:n.*1522T>C
ENST00000652096.1:c.*1555T>C	ENSP00000498896.1:n.*1555T>C
ENST00000366578.5:c.2150T>C	ENSP00000355537.4:p.Met717Thr
ENST00000461367.1:n.359T>C
ENST00000542672.5:c.2150T>C	ENSP00000443495.1:p.Met717Thr
ENST00000546208.5:c.1526T>C	ENSP00000438384.2:p.Met509Thr
NM_001103.3:c.2150T>C	NP_001094.1:p.Met717Thr
NM_001278343.1:c.2150T>C	NP_001265272.1:p.Met717Thr
NM_001278344.1:c.1526T>C	NP_001265273.1:p.Met509Thr
NM_001278343.2:c.2150T>C	NP_001265272.1:p.Met717Thr
NM_001103.4:c.2150T>C MANE Select	NP_001094.1:p.Met717Thr
NM_001278344.2:c.1526T>C	NP_001265273.1:p.Met509Thr