Canonical Allele Identifier: CA1874819735

Gene: ASTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.116571014_116571016delinsTAG , CM000671.2:g.116571014_116571016delinsTAG	GRCh38
NC_000009.11:g.119333293_119333295delinsTAG , CM000671.1:g.119333293_119333295delinsTAG	GRCh37
NC_000009.10:g.118373114_118373116delinsTAG	NCBI36
NG_021409.1:g.849023_849025delinsCTA
NG_021409.2:g.849042_849044delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313400.9:c.3355+47308_3355+47310delinsCTA MANE Select	ENSP00000314038.4:n.3355+47308_3355+47310delinsCTA
ENST00000361477.8:c.3202+47308_3202+47310delinsCTA	ENSP00000355116.5:n.3202+47308_3202+47310delinsCTA
ENST00000288520.9:c.658+47308_658+47310delinsCTA	ENSP00000288520.5:n.658+47308_658+47310delinsCTA
ENST00000313400.8:c.3355+47308_3355+47310delinsCTA	ENSP00000314038.4:n.3355+47308_3355+47310delinsCTA
ENST00000341734.8:c.511+47308_511+47310delinsCTA	ENSP00000339925.4:n.511+47308_511+47310delinsCTA
ENST00000361209.6:c.3202+47308_3202+47310delinsCTA	ENSP00000354504.2:n.3202+47308_3202+47310delinsCTA
ENST00000361477.7:c.511+47308_511+47310delinsCTA	ENSP00000355116.4:n.511+47308_511+47310delinsCTA
ENST00000373986.7:c.2524+47308_2524+47310delinsCTA	ENSP00000363098.3:n.2524+47308_2524+47310delinsCTA
NM_001184734.1:c.511+47308_511+47310delinsCTA	NP_001171663.1:n.511+47308_511+47310delinsCTA
NM_014010.4:c.3202+47308_3202+47310delinsCTA	NP_054729.3:n.3202+47308_3202+47310delinsCTA
NM_198186.3:c.658+47308_658+47310delinsCTA	NP_937829.3:n.658+47308_658+47310delinsCTA
NM_198187.3:c.511+47308_511+47310delinsCTA	NP_937830.3:n.511+47308_511+47310delinsCTA
NM_198188.2:c.511+47308_511+47310delinsCTA	NP_937831.1:n.511+47308_511+47310delinsCTA
NM_001365068.1:c.3355+47308_3355+47310delinsCTA MANE Select	NP_001351997.1:n.3355+47308_3355+47310delinsCTA
NM_001365069.1:c.3343+47308_3343+47310delinsCTA	NP_001351998.1:n.3343+47308_3343+47310delinsCTA
NM_014010.5:c.3202+47308_3202+47310delinsCTA	NP_054729.3:n.3202+47308_3202+47310delinsCTA