Canonical Allele Identifier: CA2487053273

Gene: ACTN2

Linked Data

• dbSNP Id: rs1572153715

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762679T>C , CM000663.2:g.236762679T>C	GRCh38
NC_000001.10:g.236925979T>C , CM000663.1:g.236925979T>C	GRCh37
NC_000001.9:g.234992602T>C	NCBI36
NG_009081.1:g.81210T>C
NG_009081.2:g.103539T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*60T>C	ENSP00000443495.1:n.*60T>C
ENST00000461367.2:n.1041T>C
ENST00000492634.7:n.2675T>C
ENST00000682015.1:c.*60T>C	ENSP00000506961.1:n.*60T>C
ENST00000682490.1:n.663T>C
ENST00000682692.1:n.3840T>C
ENST00000682966.1:n.8386T>C
ENST00000683111.1:c.*2031T>C	ENSP00000507913.1:n.*2031T>C
ENST00000683322.1:n.4097T>C
ENST00000683805.1:n.1536T>C
ENST00000684050.1:n.5383T>C
ENST00000684122.1:n.2179T>C
ENST00000684286.1:n.4300T>C
ENST00000684502.1:n.4042T>C
ENST00000684763.1:n.1360T>C
ENST00000366578.6:c.*60T>C MANE Select	ENSP00000355537.4:n.*60T>C
ENST00000492634.6:n.2675T>C
ENST00000542672.6:c.*60T>C	ENSP00000443495.1:n.*60T>C
ENST00000651275.1:c.2637T>C	ENSP00000498926.1:n.2637T>C
ENST00000651781.1:c.1825T>C
ENST00000651786.1:c.*2117T>C	ENSP00000498364.1:n.*2117T>C
ENST00000652096.1:c.*2150T>C	ENSP00000498896.1:n.*2150T>C
ENST00000366578.5:c.*60T>C	ENSP00000355537.4:n.*60T>C
ENST00000542672.5:c.*60T>C	ENSP00000443495.1:n.*60T>C
ENST00000546208.5:c.*60T>C	ENSP00000438384.2:n.*60T>C
NM_001103.3:c.*60T>C	NP_001094.1:n.*60T>C
NM_001278343.1:c.*60T>C	NP_001265272.1:n.*60T>C
NM_001278344.1:c.*60T>C	NP_001265273.1:n.*60T>C
NM_001278343.2:c.*60T>C	NP_001265272.1:n.*60T>C
NM_001103.4:c.*60T>C MANE Select	NP_001094.1:n.*60T>C
NM_001278344.2:c.*60T>C	NP_001265273.1:n.*60T>C