Canonical Allele Identifier: CA2532870376

Gene: ASTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117076953A>C , CM000671.2:g.117076953A>C	GRCh38
NC_000009.11:g.119839232A>C , CM000671.1:g.119839232A>C	GRCh37
NC_000009.10:g.118879053A>C	NCBI36
NG_021409.1:g.343086T>G
NG_021409.2:g.343105T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000313400.9:c.1276+19091T>G MANE Select	ENSP00000314038.4:n.1276+19091T>G
ENST00000361477.8:c.1123+19091T>G	ENSP00000355116.5:n.1123+19091T>G
ENST00000313400.8:c.1276+19091T>G	ENSP00000314038.4:n.1276+19091T>G
ENST00000361209.6:c.1123+19091T>G	ENSP00000354504.2:n.1123+19091T>G
ENST00000361477.7:c.-1569+19091T>G	ENSP00000355116.4:n.-1569+19091T>G
ENST00000373986.7:c.457+19091T>G	ENSP00000363098.3:n.457+19091T>G
NM_014010.4:c.1123+19091T>G	NP_054729.3:n.1123+19091T>G
NM_001365068.1:c.1276+19091T>G MANE Select	NP_001351997.1:n.1276+19091T>G
NM_001365069.1:c.1276+19091T>G	NP_001351998.1:n.1276+19091T>G
NM_014010.5:c.1123+19091T>G	NP_054729.3:n.1123+19091T>G