Canonical Allele Identifier: CA2651182793

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236755281-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755281T>C , CM000663.2:g.236755281T>C	GRCh38
NC_000001.10:g.236918581T>C , CM000663.1:g.236918581T>C	GRCh37
NC_000001.9:g.234985204T>C	NCBI36
NG_009081.1:g.73812T>C
NG_009081.2:g.96141T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2154+83T>C	ENSP00000443495.1:n.2154+83T>C
ENST00000461367.2:n.450+83T>C
ENST00000492634.7:n.2084+83T>C
ENST00000682015.1:c.2061+83T>C	ENSP00000506961.1:n.2061+83T>C
ENST00000682692.1:n.3249+83T>C
ENST00000682966.1:n.7795+83T>C
ENST00000683111.1:c.*1440+83T>C	ENSP00000507913.1:n.*1440+83T>C
ENST00000683322.1:n.3506+83T>C
ENST00000683805.1:n.945+83T>C
ENST00000684050.1:n.4792+83T>C
ENST00000684122.1:n.301+83T>C
ENST00000684286.1:n.3709+83T>C
ENST00000684502.1:n.3451+83T>C
ENST00000684763.1:n.769+83T>C
ENST00000366578.6:c.2154+83T>C MANE Select	ENSP00000355537.4:n.2154+83T>C
ENST00000492634.6:n.2084+83T>C
ENST00000542672.6:c.2154+83T>C	ENSP00000443495.1:n.2154+83T>C
ENST00000651091.1:c.1844+83T>C	ENSP00000498677.1:n.1844+83T>C
ENST00000651275.1:c.2046+83T>C	ENSP00000498926.1:n.2046+83T>C
ENST00000651781.1:c.1234+83T>C
ENST00000651786.1:c.*1526+83T>C	ENSP00000498364.1:n.*1526+83T>C
ENST00000652096.1:c.*1559+83T>C	ENSP00000498896.1:n.*1559+83T>C
ENST00000366578.5:c.2154+83T>C	ENSP00000355537.4:n.2154+83T>C
ENST00000461367.1:n.363+83T>C
ENST00000542672.5:c.2154+83T>C	ENSP00000443495.1:n.2154+83T>C
ENST00000546208.5:c.1530+83T>C	ENSP00000438384.2:n.1530+83T>C
NM_001103.3:c.2154+83T>C	NP_001094.1:n.2154+83T>C
NM_001278343.1:c.2154+83T>C	NP_001265272.1:n.2154+83T>C
NM_001278344.1:c.1530+83T>C	NP_001265273.1:n.1530+83T>C
NM_001278343.2:c.2154+83T>C	NP_001265272.1:n.2154+83T>C
NM_001103.4:c.2154+83T>C MANE Select	NP_001094.1:n.2154+83T>C
NM_001278344.2:c.1530+83T>C	NP_001265273.1:n.1530+83T>C