Canonical Allele Identifier: CA1473167
Gene: ACTN2 HGNC NCBI

Linked Data

dbSNP Id: rs751051082

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236747758_236747759insAAAAGAGCC , CM000663.2:g.236747758_236747759insAAAAGAGCC GRCh38
NC_000001.10:g.236911058_236911059insAAAAGAGCC , CM000663.1:g.236911058_236911059insAAAAGAGCC GRCh37
NC_000001.9:g.234977681_234977682insAAAAGAGCC NCBI36
NG_009081.1:g.66289_66290insAAAAGAGCC
NG_009081.2:g.88618_88619insAAAAGAGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000542672.7:c.1498_1499insAAAAGAGCC ENSP00000443495.1:p.Lys499_Arg500insLysLysSer
ENST00000492634.7:n.1428_1429insAAAAGAGCC
ENST00000682015.1:c.1405_1406insAAAAGAGCC ENSP00000506961.1:p.Lys468_Arg469insLysLysSer
ENST00000682692.1:n.1245_1246insAAAAGAGCC
ENST00000682966.1:n.7139_7140insAAAAGAGCC
ENST00000683111.1:c.*784_*785insAAAAGAGCC ENSP00000507913.1:n.*784_*785insAAAAGAGCC
ENST00000683322.1:n.2850_2851insAAAAGAGCC
ENST00000684050.1:n.4136_4137insAAAAGAGCC
ENST00000684286.1:n.3053_3054insAAAAGAGCC
ENST00000684502.1:n.1447_1448insAAAAGAGCC
ENST00000366578.6:c.1498_1499insAAAAGAGCC MANE Select ENSP00000355537.4:p.Lys499_Arg500insLysLysSer
ENST00000492634.6:n.1428_1429insAAAAGAGCC
ENST00000542672.6:c.1498_1499insAAAAGAGCC ENSP00000443495.1:p.Lys499_Arg500insLysLysSer
ENST00000651091.1:c.1188_1189insAAAAGAGCC ENSP00000498677.1:n.1188_1189insAAAAGAGCC
ENST00000651275.1:c.1390_1391insAAAAGAGCC ENSP00000498926.1:p.Lys463_Arg464insLysLysSer
ENST00000651781.1:c.578_579insAAAAGAGCC
ENST00000651786.1:c.*870_*871insAAAAGAGCC ENSP00000498364.1:n.*870_*871insAAAAGAGCC
ENST00000652096.1:c.*903_*904insAAAAGAGCC ENSP00000498896.1:n.*903_*904insAAAAGAGCC
ENST00000366578.5:c.1498_1499insAAAAGAGCC ENSP00000355537.4:p.Lys499_Arg500insLysLysSer
ENST00000492101.1:n.59_60insAAAAGAGCC
ENST00000542672.5:c.1498_1499insAAAAGAGCC ENSP00000443495.1:p.Lys499_Arg500insLysLysSer
ENST00000546208.5:c.874_875insAAAAGAGCC ENSP00000438384.2:p.Lys291_Arg292insLysLysSer
NM_001103.3:c.1498_1499insAAAAGAGCC NP_001094.1:p.Lys499_Arg500insLysLysSer
NM_001278343.1:c.1498_1499insAAAAGAGCC NP_001265272.1:p.Lys499_Arg500insLysLysSer
NM_001278344.1:c.874_875insAAAAGAGCC NP_001265273.1:p.Lys291_Arg292insLysLysSer
NM_001278343.2:c.1498_1499insAAAAGAGCC NP_001265272.1:p.Lys499_Arg500insLysLysSer
NM_001103.4:c.1498_1499insAAAAGAGCC MANE Select NP_001094.1:p.Lys499_Arg500insLysLysSer
NM_001278344.2:c.874_875insAAAAGAGCC NP_001265273.1:p.Lys291_Arg292insLysLysSer