Canonical Allele Identifier: CA1128485675

Gene: ASTN2

Linked Data

• dbSNP Id: rs1853509477
• gnomAD v3: 9-116571454-T-C
• gnomAD v4: 9-116571454-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.116571454T>C , CM000671.2:g.116571454T>C	GRCh38
NC_000009.11:g.119333733T>C , CM000671.1:g.119333733T>C	GRCh37
NC_000009.10:g.118373554T>C	NCBI36
NG_021409.1:g.848585A>G
NG_021409.2:g.848604A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000313400.9:c.3355+46870A>G MANE Select	ENSP00000314038.4:n.3355+46870A>G
ENST00000361477.8:c.3202+46870A>G	ENSP00000355116.5:n.3202+46870A>G
ENST00000288520.9:c.658+46870A>G	ENSP00000288520.5:n.658+46870A>G
ENST00000313400.8:c.3355+46870A>G	ENSP00000314038.4:n.3355+46870A>G
ENST00000341734.8:c.511+46870A>G	ENSP00000339925.4:n.511+46870A>G
ENST00000361209.6:c.3202+46870A>G	ENSP00000354504.2:n.3202+46870A>G
ENST00000361477.7:c.511+46870A>G	ENSP00000355116.4:n.511+46870A>G
ENST00000373986.7:c.2524+46870A>G	ENSP00000363098.3:n.2524+46870A>G
NM_001184734.1:c.511+46870A>G	NP_001171663.1:n.511+46870A>G
NM_014010.4:c.3202+46870A>G	NP_054729.3:n.3202+46870A>G
NM_198186.3:c.658+46870A>G	NP_937829.3:n.658+46870A>G
NM_198187.3:c.511+46870A>G	NP_937830.3:n.511+46870A>G
NM_198188.2:c.511+46870A>G	NP_937831.1:n.511+46870A>G
NM_001365068.1:c.3355+46870A>G MANE Select	NP_001351997.1:n.3355+46870A>G
NM_001365069.1:c.3343+46870A>G	NP_001351998.1:n.3343+46870A>G
NM_014010.5:c.3202+46870A>G	NP_054729.3:n.3202+46870A>G