Canonical Allele Identifier: CA12998761

Gene: ASTN2

Linked Data

• dbSNP Id: rs10983238
• gnomAD v2: 9-119333683-C-G
• gnomAD v3: 9-116571404-C-G
• gnomAD v4: 9-116571404-C-G
• MyVariant Identifiers: chr9:g.119333683C>G (hg19) ; chr9:g.116571404C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.116571404C>G , CM000671.2:g.116571404C>G	GRCh38
NC_000009.11:g.119333683C>G , CM000671.1:g.119333683C>G	GRCh37
NC_000009.10:g.118373504C>G	NCBI36
NG_021409.1:g.848635G>C
NG_021409.2:g.848654G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313400.9:c.3355+46920G>C MANE Select	ENSP00000314038.4:n.3355+46920G>C
ENST00000361477.8:c.3202+46920G>C	ENSP00000355116.5:n.3202+46920G>C
ENST00000288520.9:c.658+46920G>C	ENSP00000288520.5:n.658+46920G>C
ENST00000313400.8:c.3355+46920G>C	ENSP00000314038.4:n.3355+46920G>C
ENST00000341734.8:c.511+46920G>C	ENSP00000339925.4:n.511+46920G>C
ENST00000361209.6:c.3202+46920G>C	ENSP00000354504.2:n.3202+46920G>C
ENST00000361477.7:c.511+46920G>C	ENSP00000355116.4:n.511+46920G>C
ENST00000373986.7:c.2524+46920G>C	ENSP00000363098.3:n.2524+46920G>C
NM_001184734.1:c.511+46920G>C	NP_001171663.1:n.511+46920G>C
NM_014010.4:c.3202+46920G>C	NP_054729.3:n.3202+46920G>C
NM_198186.3:c.658+46920G>C	NP_937829.3:n.658+46920G>C
NM_198187.3:c.511+46920G>C	NP_937830.3:n.511+46920G>C
NM_198188.2:c.511+46920G>C	NP_937831.1:n.511+46920G>C
NM_001365068.1:c.3355+46920G>C MANE Select	NP_001351997.1:n.3355+46920G>C
NM_001365069.1:c.3343+46920G>C	NP_001351998.1:n.3343+46920G>C
NM_014010.5:c.3202+46920G>C	NP_054729.3:n.3202+46920G>C