Canonical Allele Identifier: CA345373444

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236882193G>C (hg19) ; chr1:g.236718893G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718893G>C , CM000663.2:g.236718893G>C	GRCh38
NC_000001.10:g.236882193G>C , CM000663.1:g.236882193G>C	GRCh37
NC_000001.9:g.234948816G>C	NCBI36
NG_009081.1:g.37424G>C
NG_009081.2:g.59753G>C

Transcript Alleles

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