Canonical Allele Identifier: CA1472752

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1447664
• ClinVar RCV Id: RCV002011960
• dbSNP Id: rs770703958
• ExAC: 1:236882191 C / T
• gnomAD v2: 1-236882191-C-T
• gnomAD v4: 1-236718891-C-T
• MyVariant Identifiers: chr1:g.236882191C>T (hg19) ; chr1:g.236718891C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718891C>T , CM000663.2:g.236718891C>T	GRCh38
NC_000001.10:g.236882191C>T , CM000663.1:g.236882191C>T	GRCh37
NC_000001.9:g.234948814C>T	NCBI36
NG_009081.1:g.37422C>T
NG_009081.2:g.59751C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.242-3C>T	ENSP00000443495.1:n.242-3C>T
ENST00000492634.7:n.337-3C>T
ENST00000682015.1:c.242-3C>T	ENSP00000506961.1:n.242-3C>T
ENST00000682692.1:n.242-3C>T
ENST00000682966.1:n.241-3C>T
ENST00000683075.1:n.181-3C>T
ENST00000683111.1:c.185-3C>T	ENSP00000507913.1:n.185-3C>T
ENST00000684050.1:n.277-3C>T
ENST00000684286.1:n.310-3C>T
ENST00000684502.1:n.277-3C>T
ENST00000366578.6:c.242-3C>T MANE Select	ENSP00000355537.4:n.242-3C>T
ENST00000492634.6:n.337-3C>T
ENST00000542672.6:c.242-3C>T	ENSP00000443495.1:n.242-3C>T
ENST00000651091.1:c.185-3C>T	ENSP00000498677.1:n.185-3C>T
ENST00000651187.1:c.26-3C>T	ENSP00000498348.1:n.26-3C>T
ENST00000651275.1:c.227-3C>T	ENSP00000498926.1:n.227-3C>T
ENST00000651786.1:c.242-3C>T	ENSP00000498364.1:n.242-3C>T
ENST00000652096.1:c.242-3C>T	ENSP00000498896.1:n.242-3C>T
ENST00000366578.5:c.242-3C>T	ENSP00000355537.4:n.242-3C>T
ENST00000492634.5:n.389-3C>T
ENST00000542672.5:c.242-3C>T	ENSP00000443495.1:n.242-3C>T
ENST00000546208.5:c.-580-3C>T	ENSP00000438384.2:n.-580-3C>T
NM_001103.3:c.242-3C>T	NP_001094.1:n.242-3C>T
NM_001278343.1:c.242-3C>T	NP_001265272.1:n.242-3C>T
NM_001278344.1:c.-580-3C>T	NP_001265273.1:n.-580-3C>T
NM_001278343.2:c.242-3C>T	NP_001265272.1:n.242-3C>T
NM_001103.4:c.242-3C>T MANE Select	NP_001094.1:n.242-3C>T
NM_001278344.2:c.-580-3C>T	NP_001265273.1:n.-580-3C>T