Canonical Allele Identifier: CA39743584

Gene: ACTN2

Linked Data

• dbSNP Id: rs973706800
• gnomAD v2: 1-236920702-C-T
• gnomAD v3: 1-236757402-C-T
• gnomAD v4: 1-236757402-C-T
• MyVariant Identifiers: chr1:g.236920702C>T (hg19) ; chr1:g.236757402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757402C>T , CM000663.2:g.236757402C>T	GRCh38
NC_000001.10:g.236920702C>T , CM000663.1:g.236920702C>T	GRCh37
NC_000001.9:g.234987325C>T	NCBI36
NG_009081.1:g.75933C>T
NG_009081.2:g.98262C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2155-84C>T	ENSP00000443495.1:n.2155-84C>T
ENST00000461367.2:n.451-84C>T
ENST00000492634.7:n.2085-84C>T
ENST00000682015.1:c.2062-84C>T	ENSP00000506961.1:n.2062-84C>T
ENST00000682490.1:n.73-84C>T
ENST00000682692.1:n.3250-84C>T
ENST00000682966.1:n.7796-84C>T
ENST00000683111.1:c.*1441-84C>T	ENSP00000507913.1:n.*1441-84C>T
ENST00000683322.1:n.3507-84C>T
ENST00000683805.1:n.946-84C>T
ENST00000684050.1:n.4793-84C>T
ENST00000684122.1:n.302-84C>T
ENST00000684286.1:n.3710-84C>T
ENST00000684502.1:n.3452-84C>T
ENST00000684763.1:n.770-84C>T
ENST00000366578.6:c.2155-84C>T MANE Select	ENSP00000355537.4:n.2155-84C>T
ENST00000492634.6:n.2085-84C>T
ENST00000542672.6:c.2155-84C>T	ENSP00000443495.1:n.2155-84C>T
ENST00000651091.1:c.1845-84C>T	ENSP00000498677.1:n.1845-84C>T
ENST00000651275.1:c.2047-84C>T	ENSP00000498926.1:n.2047-84C>T
ENST00000651781.1:c.1235-84C>T
ENST00000651786.1:c.*1527-84C>T	ENSP00000498364.1:n.*1527-84C>T
ENST00000652096.1:c.*1560-84C>T	ENSP00000498896.1:n.*1560-84C>T
ENST00000366578.5:c.2155-84C>T	ENSP00000355537.4:n.2155-84C>T
ENST00000461367.1:n.364-84C>T
ENST00000542672.5:c.2155-84C>T	ENSP00000443495.1:n.2155-84C>T
ENST00000546208.5:c.1531-84C>T	ENSP00000438384.2:n.1531-84C>T
NM_001103.3:c.2155-84C>T	NP_001094.1:n.2155-84C>T
NM_001278343.1:c.2155-84C>T	NP_001265272.1:n.2155-84C>T
NM_001278344.1:c.1531-84C>T	NP_001265273.1:n.1531-84C>T
NM_001278343.2:c.2155-84C>T	NP_001265272.1:n.2155-84C>T
NM_001103.4:c.2155-84C>T MANE Select	NP_001094.1:n.2155-84C>T
NM_001278344.2:c.1531-84C>T	NP_001265273.1:n.1531-84C>T