Canonical Allele Identifier: CA345385867

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236751540T>C , CM000663.2:g.236751540T>C	GRCh38
NC_000001.10:g.236914840T>C , CM000663.1:g.236914840T>C	GRCh37
NC_000001.9:g.234981463T>C	NCBI36
NG_009081.1:g.70071T>C
NG_009081.2:g.92400T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001103.4:c.1727T>C MANE Select	NP_001094.1:p.Met576Thr
ENST00000366578.6:c.1727T>C MANE Select	ENSP00000355537.4:p.Met576Thr
NM_001103.3:c.1727T>C	NP_001094.1:p.Met576Thr
NM_001278343.1:c.1727T>C	NP_001265272.1:p.Met576Thr
NM_001278343.2:c.1727T>C	NP_001265272.1:p.Met576Thr
NM_001278344.1:c.1103T>C	NP_001265273.1:p.Met368Thr
NM_001278344.2:c.1103T>C	NP_001265273.1:p.Met368Thr
ENST00000366578.5:c.1727T>C	ENSP00000355537.4:p.Met576Thr
ENST00000492634.6:n.1657T>C
ENST00000492634.7:n.1657T>C
ENST00000542672.5:c.1727T>C	ENSP00000443495.1:p.Met576Thr
ENST00000542672.6:c.1727T>C	ENSP00000443495.1:p.Met576Thr
ENST00000542672.7:c.1727T>C	ENSP00000443495.1:p.Met576Thr
ENST00000546208.5:c.1103T>C	ENSP00000438384.2:p.Met368Thr
ENST00000651091.1:c.1417T>C	ENSP00000498677.1:n.1417T>C
ENST00000651275.1:c.1619T>C	ENSP00000498926.1:p.Met540Thr
ENST00000651781.1:c.807T>C
ENST00000651786.1:c.*1099T>C	ENSP00000498364.1:n.*1099T>C
ENST00000652096.1:c.*1132T>C	ENSP00000498896.1:n.*1132T>C
ENST00000682015.1:c.1634T>C	ENSP00000506961.1:p.Met545Thr
ENST00000682692.1:n.2822T>C
ENST00000682966.1:n.7368T>C
ENST00000683111.1:c.*1013T>C	ENSP00000507913.1:n.*1013T>C
ENST00000683322.1:n.3079T>C
ENST00000684050.1:n.4365T>C
ENST00000684286.1:n.3282T>C
ENST00000684502.1:n.3024T>C
ENST00000684763.1:n.342T>C