Canonical Allele Identifier: CA2651182035

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236757400-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757400G>T , CM000663.2:g.236757400G>T	GRCh38
NC_000001.10:g.236920700G>T , CM000663.1:g.236920700G>T	GRCh37
NC_000001.9:g.234987323G>T	NCBI36
NG_009081.1:g.75931G>T
NG_009081.2:g.98260G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2155-86G>T	ENSP00000443495.1:n.2155-86G>T
ENST00000461367.2:n.451-86G>T
ENST00000492634.7:n.2085-86G>T
ENST00000682015.1:c.2062-86G>T	ENSP00000506961.1:n.2062-86G>T
ENST00000682490.1:n.73-86G>T
ENST00000682692.1:n.3250-86G>T
ENST00000682966.1:n.7796-86G>T
ENST00000683111.1:c.*1441-86G>T	ENSP00000507913.1:n.*1441-86G>T
ENST00000683322.1:n.3507-86G>T
ENST00000683805.1:n.946-86G>T
ENST00000684050.1:n.4793-86G>T
ENST00000684122.1:n.302-86G>T
ENST00000684286.1:n.3710-86G>T
ENST00000684502.1:n.3452-86G>T
ENST00000684763.1:n.770-86G>T
ENST00000366578.6:c.2155-86G>T MANE Select	ENSP00000355537.4:n.2155-86G>T
ENST00000492634.6:n.2085-86G>T
ENST00000542672.6:c.2155-86G>T	ENSP00000443495.1:n.2155-86G>T
ENST00000651091.1:c.1845-86G>T	ENSP00000498677.1:n.1845-86G>T
ENST00000651275.1:c.2047-86G>T	ENSP00000498926.1:n.2047-86G>T
ENST00000651781.1:c.1235-86G>T
ENST00000651786.1:c.*1527-86G>T	ENSP00000498364.1:n.*1527-86G>T
ENST00000652096.1:c.*1560-86G>T	ENSP00000498896.1:n.*1560-86G>T
ENST00000366578.5:c.2155-86G>T	ENSP00000355537.4:n.2155-86G>T
ENST00000461367.1:n.364-86G>T
ENST00000542672.5:c.2155-86G>T	ENSP00000443495.1:n.2155-86G>T
ENST00000546208.5:c.1531-86G>T	ENSP00000438384.2:n.1531-86G>T
NM_001103.3:c.2155-86G>T	NP_001094.1:n.2155-86G>T
NM_001278343.1:c.2155-86G>T	NP_001265272.1:n.2155-86G>T
NM_001278344.1:c.1531-86G>T	NP_001265273.1:n.1531-86G>T
NM_001278343.2:c.2155-86G>T	NP_001265272.1:n.2155-86G>T
NM_001103.4:c.2155-86G>T MANE Select	NP_001094.1:n.2155-86G>T
NM_001278344.2:c.1531-86G>T	NP_001265273.1:n.1531-86G>T