Canonical Allele Identifier: CA2651182840

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762644-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762644C>T , CM000663.2:g.236762644C>T	GRCh38
NC_000001.10:g.236925944C>T , CM000663.1:g.236925944C>T	GRCh37
NC_000001.9:g.234992567C>T	NCBI36
NG_009081.1:g.81175C>T
NG_009081.2:g.103504C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*25C>T	ENSP00000443495.1:n.*25C>T
ENST00000461367.2:n.1006C>T
ENST00000492634.7:n.2640C>T
ENST00000682015.1:c.*25C>T	ENSP00000506961.1:n.*25C>T
ENST00000682490.1:n.628C>T
ENST00000682692.1:n.3805C>T
ENST00000682966.1:n.8351C>T
ENST00000683111.1:c.*1996C>T	ENSP00000507913.1:n.*1996C>T
ENST00000683322.1:n.4062C>T
ENST00000683805.1:n.1501C>T
ENST00000684050.1:n.5348C>T
ENST00000684122.1:n.2144C>T
ENST00000684286.1:n.4265C>T
ENST00000684502.1:n.4007C>T
ENST00000684763.1:n.1325C>T
ENST00000366578.6:c.*25C>T MANE Select	ENSP00000355537.4:n.*25C>T
ENST00000492634.6:n.2640C>T
ENST00000542672.6:c.*25C>T	ENSP00000443495.1:n.*25C>T
ENST00000651275.1:c.2602C>T	ENSP00000498926.1:n.2602C>T
ENST00000651781.1:c.1790C>T
ENST00000651786.1:c.*2082C>T	ENSP00000498364.1:n.*2082C>T
ENST00000652096.1:c.*2115C>T	ENSP00000498896.1:n.*2115C>T
ENST00000366578.5:c.*25C>T	ENSP00000355537.4:n.*25C>T
ENST00000542672.5:c.*25C>T	ENSP00000443495.1:n.*25C>T
ENST00000546208.5:c.*25C>T	ENSP00000438384.2:n.*25C>T
NM_001103.3:c.*25C>T	NP_001094.1:n.*25C>T
NM_001278343.1:c.*25C>T	NP_001265272.1:n.*25C>T
NM_001278344.1:c.*25C>T	NP_001265273.1:n.*25C>T
NM_001278343.2:c.*25C>T	NP_001265272.1:n.*25C>T
NM_001103.4:c.*25C>T MANE Select	NP_001094.1:n.*25C>T
NM_001278344.2:c.*25C>T	NP_001265273.1:n.*25C>T