Canonical Allele Identifier: CA2838310390
Gene: ASTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.116571341C>A , CM000671.2:g.116571341C>A GRCh38
NC_000009.11:g.119333620C>A , CM000671.1:g.119333620C>A GRCh37
NC_000009.10:g.118373441C>A NCBI36
NG_021409.1:g.848698G>T
NG_021409.2:g.848717G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313400.9:c.3355+46983G>T MANE Select ENSP00000314038.4:n.3355+46983G>T
ENST00000361477.8:c.3202+46983G>T ENSP00000355116.5:n.3202+46983G>T
ENST00000288520.9:c.658+46983G>T ENSP00000288520.5:n.658+46983G>T
ENST00000313400.8:c.3355+46983G>T ENSP00000314038.4:n.3355+46983G>T
ENST00000341734.8:c.511+46983G>T ENSP00000339925.4:n.511+46983G>T
ENST00000361209.6:c.3202+46983G>T ENSP00000354504.2:n.3202+46983G>T
ENST00000361477.7:c.511+46983G>T ENSP00000355116.4:n.511+46983G>T
ENST00000373986.7:c.2524+46983G>T ENSP00000363098.3:n.2524+46983G>T
NM_001184734.1:c.511+46983G>T NP_001171663.1:n.511+46983G>T
NM_014010.4:c.3202+46983G>T NP_054729.3:n.3202+46983G>T
NM_198186.3:c.658+46983G>T NP_937829.3:n.658+46983G>T
NM_198187.3:c.511+46983G>T NP_937830.3:n.511+46983G>T
NM_198188.2:c.511+46983G>T NP_937831.1:n.511+46983G>T
NM_001365068.1:c.3355+46983G>T MANE Select NP_001351997.1:n.3355+46983G>T
NM_001365069.1:c.3343+46983G>T NP_001351998.1:n.3343+46983G>T
NM_014010.5:c.3202+46983G>T NP_054729.3:n.3202+46983G>T