Canonical Allele Identifier: CA590332598

Gene: ASTN2

Linked Data

• dbSNP Id: rs1417810481
• gnomAD v2: 9-119333702-T-G
• MyVariant Identifiers: chr9:g.119333702T>G (hg19) ; chr9:g.116571423T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.116571423T>G , CM000671.2:g.116571423T>G	GRCh38
NC_000009.11:g.119333702T>G , CM000671.1:g.119333702T>G	GRCh37
NC_000009.10:g.118373523T>G	NCBI36
NG_021409.1:g.848616A>C
NG_021409.2:g.848635A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313400.9:c.3355+46901A>C MANE Select	ENSP00000314038.4:n.3355+46901A>C
ENST00000361477.8:c.3202+46901A>C	ENSP00000355116.5:n.3202+46901A>C
ENST00000288520.9:c.658+46901A>C	ENSP00000288520.5:n.658+46901A>C
ENST00000313400.8:c.3355+46901A>C	ENSP00000314038.4:n.3355+46901A>C
ENST00000341734.8:c.511+46901A>C	ENSP00000339925.4:n.511+46901A>C
ENST00000361209.6:c.3202+46901A>C	ENSP00000354504.2:n.3202+46901A>C
ENST00000361477.7:c.511+46901A>C	ENSP00000355116.4:n.511+46901A>C
ENST00000373986.7:c.2524+46901A>C	ENSP00000363098.3:n.2524+46901A>C
NM_001184734.1:c.511+46901A>C	NP_001171663.1:n.511+46901A>C
NM_014010.4:c.3202+46901A>C	NP_054729.3:n.3202+46901A>C
NM_198186.3:c.658+46901A>C	NP_937829.3:n.658+46901A>C
NM_198187.3:c.511+46901A>C	NP_937830.3:n.511+46901A>C
NM_198188.2:c.511+46901A>C	NP_937831.1:n.511+46901A>C
NM_001365068.1:c.3355+46901A>C MANE Select	NP_001351997.1:n.3355+46901A>C
NM_001365069.1:c.3343+46901A>C	NP_001351998.1:n.3343+46901A>C
NM_014010.5:c.3202+46901A>C	NP_054729.3:n.3202+46901A>C