Canonical Allele Identifier: CA1874819725

Gene: ASTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.116570999_116571000delinsGC , CM000671.2:g.116570999_116571000delinsGC	GRCh38
NC_000009.11:g.119333278_119333279delinsGC , CM000671.1:g.119333278_119333279delinsGC	GRCh37
NC_000009.10:g.118373099_118373100delinsGC	NCBI36
NG_021409.1:g.849039_849040delinsGC
NG_021409.2:g.849058_849059delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313400.9:c.3355+47324_3355+47325delinsGC MANE Select	ENSP00000314038.4:n.3355+47324_3355+47325delinsGC
ENST00000361477.8:c.3202+47324_3202+47325delinsGC	ENSP00000355116.5:n.3202+47324_3202+47325delinsGC
ENST00000288520.9:c.658+47324_658+47325delinsGC	ENSP00000288520.5:n.658+47324_658+47325delinsGC
ENST00000313400.8:c.3355+47324_3355+47325delinsGC	ENSP00000314038.4:n.3355+47324_3355+47325delinsGC
ENST00000341734.8:c.511+47324_511+47325delinsGC	ENSP00000339925.4:n.511+47324_511+47325delinsGC
ENST00000361209.6:c.3202+47324_3202+47325delinsGC	ENSP00000354504.2:n.3202+47324_3202+47325delinsGC
ENST00000361477.7:c.511+47324_511+47325delinsGC	ENSP00000355116.4:n.511+47324_511+47325delinsGC
ENST00000373986.7:c.2524+47324_2524+47325delinsGC	ENSP00000363098.3:n.2524+47324_2524+47325delinsGC
NM_001184734.1:c.511+47324_511+47325delinsGC	NP_001171663.1:n.511+47324_511+47325delinsGC
NM_014010.4:c.3202+47324_3202+47325delinsGC	NP_054729.3:n.3202+47324_3202+47325delinsGC
NM_198186.3:c.658+47324_658+47325delinsGC	NP_937829.3:n.658+47324_658+47325delinsGC
NM_198187.3:c.511+47324_511+47325delinsGC	NP_937830.3:n.511+47324_511+47325delinsGC
NM_198188.2:c.511+47324_511+47325delinsGC	NP_937831.1:n.511+47324_511+47325delinsGC
NM_001365068.1:c.3355+47324_3355+47325delinsGC MANE Select	NP_001351997.1:n.3355+47324_3355+47325delinsGC
NM_001365069.1:c.3343+47324_3343+47325delinsGC	NP_001351998.1:n.3343+47324_3343+47325delinsGC
NM_014010.5:c.3202+47324_3202+47325delinsGC	NP_054729.3:n.3202+47324_3202+47325delinsGC