Canonical Allele Identifier: CA2545656588

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762455_236762456insAAAAGGA , CM000663.2:g.236762455_236762456insAAAAGGA	GRCh38
NC_000001.10:g.236925755_236925756insAAAAGGA , CM000663.1:g.236925755_236925756insAAAAGGA	GRCh37
NC_000001.9:g.234992378_234992379insAAAAGGA	NCBI36
NG_009081.1:g.80986_80987insAAAAGGA
NG_009081.2:g.103315_103316insAAAAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2527-6_2527-5insAAAAGGA	ENSP00000443495.1:n.2527-6_2527-5insAAAAGGA
ENST00000461367.2:n.823-6_823-5insAAAAGGA
ENST00000492634.7:n.2457-6_2457-5insAAAAGGA
ENST00000682015.1:c.2434-6_2434-5insAAAAGGA	ENSP00000506961.1:n.2434-6_2434-5insAAAAGGA
ENST00000682490.1:n.445-6_445-5insAAAAGGA
ENST00000682692.1:n.3622-6_3622-5insAAAAGGA
ENST00000682966.1:n.8168-6_8168-5insAAAAGGA
ENST00000683111.1:c.*1813-6_*1813-5insAAAAGGA	ENSP00000507913.1:n.*1813-6_*1813-5insAAAAGGA
ENST00000683322.1:n.3879-6_3879-5insAAAAGGA
ENST00000683805.1:n.1318-6_1318-5insAAAAGGA
ENST00000684050.1:n.5165-6_5165-5insAAAAGGA
ENST00000684122.1:n.1955_1956insAAAAGGA
ENST00000684286.1:n.4082-6_4082-5insAAAAGGA
ENST00000684502.1:n.3824-6_3824-5insAAAAGGA
ENST00000684763.1:n.1142-6_1142-5insAAAAGGA
ENST00000366578.6:c.2527-6_2527-5insAAAAGGA MANE Select	ENSP00000355537.4:n.2527-6_2527-5insAAAAGGA
ENST00000492634.6:n.2457-6_2457-5insAAAAGGA
ENST00000542672.6:c.2527-6_2527-5insAAAAGGA	ENSP00000443495.1:n.2527-6_2527-5insAAAAGGA
ENST00000651091.1:c.2217-6_2217-5insAAAAGGA	ENSP00000498677.1:n.2217-6_2217-5insAAAAGGA
ENST00000651275.1:c.2419-6_2419-5insAAAAGGA	ENSP00000498926.1:n.2419-6_2419-5insAAAAGGA
ENST00000651781.1:c.1607-6_1607-5insAAAAGGA
ENST00000651786.1:c.*1899-6_*1899-5insAAAAGGA	ENSP00000498364.1:n.*1899-6_*1899-5insAAAAGGA
ENST00000652096.1:c.*1932-6_*1932-5insAAAAGGA	ENSP00000498896.1:n.*1932-6_*1932-5insAAAAGGA
ENST00000366578.5:c.2527-6_2527-5insAAAAGGA	ENSP00000355537.4:n.2527-6_2527-5insAAAAGGA
ENST00000461367.1:n.736-6_736-5insAAAAGGA
ENST00000542672.5:c.2527-6_2527-5insAAAAGGA	ENSP00000443495.1:n.2527-6_2527-5insAAAAGGA
ENST00000546208.5:c.1903-6_1903-5insAAAAGGA	ENSP00000438384.2:n.1903-6_1903-5insAAAAGGA
NM_001103.3:c.2527-6_2527-5insAAAAGGA	NP_001094.1:n.2527-6_2527-5insAAAAGGA
NM_001278343.1:c.2527-6_2527-5insAAAAGGA	NP_001265272.1:n.2527-6_2527-5insAAAAGGA
NM_001278344.1:c.1903-6_1903-5insAAAAGGA	NP_001265273.1:n.1903-6_1903-5insAAAAGGA
NM_001278343.2:c.2527-6_2527-5insAAAAGGA	NP_001265272.1:n.2527-6_2527-5insAAAAGGA
NM_001103.4:c.2527-6_2527-5insAAAAGGA MANE Select	NP_001094.1:n.2527-6_2527-5insAAAAGGA
NM_001278344.2:c.1903-6_1903-5insAAAAGGA	NP_001265273.1:n.1903-6_1903-5insAAAAGGA