Canonical Allele Identifier: CA2651182885

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762718-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762718G>C , CM000663.2:g.236762718G>C	GRCh38
NC_000001.10:g.236926018G>C , CM000663.1:g.236926018G>C	GRCh37
NC_000001.9:g.234992641G>C	NCBI36
NG_009081.1:g.81249G>C
NG_009081.2:g.103578G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*99G>C	ENSP00000443495.1:n.*99G>C
ENST00000461367.2:n.1080G>C
ENST00000492634.7:n.2714G>C
ENST00000682015.1:c.*99G>C	ENSP00000506961.1:n.*99G>C
ENST00000682490.1:n.702G>C
ENST00000682692.1:n.3879G>C
ENST00000682966.1:n.8425G>C
ENST00000683111.1:c.*2070G>C	ENSP00000507913.1:n.*2070G>C
ENST00000683322.1:n.4136G>C
ENST00000683805.1:n.1575G>C
ENST00000684050.1:n.5422G>C
ENST00000684122.1:n.2218G>C
ENST00000684286.1:n.4339G>C
ENST00000684502.1:n.4081G>C
ENST00000684763.1:n.1399G>C
ENST00000366578.6:c.*99G>C MANE Select	ENSP00000355537.4:n.*99G>C
ENST00000492634.6:n.2714G>C
ENST00000542672.6:c.*99G>C	ENSP00000443495.1:n.*99G>C
ENST00000651275.1:c.2676G>C	ENSP00000498926.1:n.2676G>C
ENST00000651781.1:c.1864G>C
ENST00000652096.1:c.*2189G>C	ENSP00000498896.1:n.*2189G>C
ENST00000366578.5:c.*99G>C	ENSP00000355537.4:n.*99G>C
ENST00000542672.5:c.*99G>C	ENSP00000443495.1:n.*99G>C
ENST00000546208.5:c.*99G>C	ENSP00000438384.2:n.*99G>C
NM_001103.3:c.*99G>C	NP_001094.1:n.*99G>C
NM_001278343.1:c.*99G>C	NP_001265272.1:n.*99G>C
NM_001278344.1:c.*99G>C	NP_001265273.1:n.*99G>C
NM_001278343.2:c.*99G>C	NP_001265272.1:n.*99G>C
NM_001103.4:c.*99G>C MANE Select	NP_001094.1:n.*99G>C
NM_001278344.2:c.*99G>C	NP_001265273.1:n.*99G>C