Canonical Allele Identifier: CA1128485611

Gene: ASTN2

Linked Data

• dbSNP Id: rs1853504531
• gnomAD v3: 9-116571340-G-A
• gnomAD v4: 9-116571340-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.116571340G>A , CM000671.2:g.116571340G>A	GRCh38
NC_000009.11:g.119333619G>A , CM000671.1:g.119333619G>A	GRCh37
NC_000009.10:g.118373440G>A	NCBI36
NG_021409.1:g.848699C>T
NG_021409.2:g.848718C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313400.9:c.3355+46984C>T MANE Select	ENSP00000314038.4:n.3355+46984C>T
ENST00000361477.8:c.3202+46984C>T	ENSP00000355116.5:n.3202+46984C>T
ENST00000288520.9:c.658+46984C>T	ENSP00000288520.5:n.658+46984C>T
ENST00000313400.8:c.3355+46984C>T	ENSP00000314038.4:n.3355+46984C>T
ENST00000341734.8:c.511+46984C>T	ENSP00000339925.4:n.511+46984C>T
ENST00000361209.6:c.3202+46984C>T	ENSP00000354504.2:n.3202+46984C>T
ENST00000361477.7:c.511+46984C>T	ENSP00000355116.4:n.511+46984C>T
ENST00000373986.7:c.2524+46984C>T	ENSP00000363098.3:n.2524+46984C>T
NM_001184734.1:c.511+46984C>T	NP_001171663.1:n.511+46984C>T
NM_014010.4:c.3202+46984C>T	NP_054729.3:n.3202+46984C>T
NM_198186.3:c.658+46984C>T	NP_937829.3:n.658+46984C>T
NM_198187.3:c.511+46984C>T	NP_937830.3:n.511+46984C>T
NM_198188.2:c.511+46984C>T	NP_937831.1:n.511+46984C>T
NM_001365068.1:c.3355+46984C>T MANE Select	NP_001351997.1:n.3355+46984C>T
NM_001365069.1:c.3343+46984C>T	NP_001351998.1:n.3343+46984C>T
NM_014010.5:c.3202+46984C>T	NP_054729.3:n.3202+46984C>T