Canonical Allele Identifier: CA2487035623
Gene: ACTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236718692_236718693delinsTC , CM000663.2:g.236718692_236718693delinsTC GRCh38
NC_000001.10:g.236881992_236881993delinsTC , CM000663.1:g.236881992_236881993delinsTC GRCh37
NC_000001.9:g.234948615_234948616delinsTC NCBI36
NG_009081.1:g.37223_37224delinsTC
NG_009081.2:g.59552_59553delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000542672.7:c.242-202_242-201delinsTC ENSP00000443495.1:n.242-202_242-201delinsTC
ENST00000492634.7:n.337-202_337-201delinsTC
ENST00000682015.1:c.242-202_242-201delinsTC ENSP00000506961.1:n.242-202_242-201delinsTC
ENST00000682692.1:n.242-202_242-201delinsTC
ENST00000682966.1:n.241-202_241-201delinsTC
ENST00000683075.1:n.181-202_181-201delinsTC
ENST00000683111.1:c.185-202_185-201delinsTC ENSP00000507913.1:n.185-202_185-201delinsTC
ENST00000684050.1:n.277-202_277-201delinsTC
ENST00000684286.1:n.310-202_310-201delinsTC
ENST00000684502.1:n.277-202_277-201delinsTC
ENST00000366578.6:c.242-202_242-201delinsTC MANE Select ENSP00000355537.4:n.242-202_242-201delinsTC
ENST00000492634.6:n.337-202_337-201delinsTC
ENST00000542672.6:c.242-202_242-201delinsTC ENSP00000443495.1:n.242-202_242-201delinsTC
ENST00000651091.1:c.185-202_185-201delinsTC ENSP00000498677.1:n.185-202_185-201delinsTC
ENST00000651187.1:c.26-202_26-201delinsTC ENSP00000498348.1:n.26-202_26-201delinsTC
ENST00000651275.1:c.227-202_227-201delinsTC ENSP00000498926.1:n.227-202_227-201delinsTC
ENST00000651786.1:c.242-202_242-201delinsTC ENSP00000498364.1:n.242-202_242-201delinsTC
ENST00000652096.1:c.242-202_242-201delinsTC ENSP00000498896.1:n.242-202_242-201delinsTC
ENST00000366578.5:c.242-202_242-201delinsTC ENSP00000355537.4:n.242-202_242-201delinsTC
ENST00000492634.5:n.389-202_389-201delinsTC
ENST00000542672.5:c.242-202_242-201delinsTC ENSP00000443495.1:n.242-202_242-201delinsTC
ENST00000546208.5:c.-580-202_-580-201delinsTC ENSP00000438384.2:n.-580-202_-580-201delinsTC
NM_001103.3:c.242-202_242-201delinsTC NP_001094.1:n.242-202_242-201delinsTC
NM_001278343.1:c.242-202_242-201delinsTC NP_001265272.1:n.242-202_242-201delinsTC
NM_001278344.1:c.-580-202_-580-201delinsTC NP_001265273.1:n.-580-202_-580-201delinsTC
NM_001278343.2:c.242-202_242-201delinsTC NP_001265272.1:n.242-202_242-201delinsTC
NM_001103.4:c.242-202_242-201delinsTC MANE Select NP_001094.1:n.242-202_242-201delinsTC
NM_001278344.2:c.-580-202_-580-201delinsTC NP_001265273.1:n.-580-202_-580-201delinsTC