Canonical Allele Identifier: CA1874956228

Gene: ASTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.116866020_116866023delinsCCTT , CM000671.2:g.116866020_116866023delinsCCTT	GRCh38
NC_000009.11:g.119628299_119628302delinsCCTT , CM000671.1:g.119628299_119628302delinsCCTT	GRCh37
NC_000009.10:g.118668120_118668123delinsCCTT	NCBI36
NG_021409.1:g.554016_554019delinsAAGG
NG_021409.2:g.554035_554038delinsAAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000313400.9:c.1890-2290_1890-2287delinsAAGG MANE Select	ENSP00000314038.4:n.1890-2290_1890-2287de...
ENST00000361477.8:c.1737-2290_1737-2287delinsAAGG	ENSP00000355116.5:n.1737-2290_1737-2287de...
ENST00000313400.8:c.1890-2290_1890-2287delinsAAGG	ENSP00000314038.4:n.1890-2290_1890-2287de...
ENST00000361209.6:c.1737-2290_1737-2287delinsAAGG	ENSP00000354504.2:n.1737-2290_1737-2287de...
ENST00000361477.7:c.-955-2290_-955-2287delinsAAGG	ENSP00000355116.4:n.-955-2290_-955-2287de...
ENST00000373986.7:c.1059-2290_1059-2287delinsAAGG	ENSP00000363098.3:n.1059-2290_1059-2287de...
NM_014010.4:c.1737-2290_1737-2287delinsAAGG	NP_054729.3:n.1737-2290_1737-2287delinsAA...
NM_001365068.1:c.1890-2290_1890-2287delinsAAGG MANE Select	NP_001351997.1:n.1890-2290_1890-2287delin...
NM_001365069.1:c.1878-2290_1878-2287delinsAAGG	NP_001351998.1:n.1878-2290_1878-2287delin...
NM_014010.5:c.1737-2290_1737-2287delinsAAGG	NP_054729.3:n.1737-2290_1737-2287delinsAA...