Canonical Allele Identifier: CA199096480

Gene: ASTN2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117164147T>A , CM000671.2:g.117164147T>A	GRCh38
NC_000009.11:g.119926426T>A , CM000671.1:g.119926426T>A	GRCh37
NC_000009.10:g.118966247T>A	NCBI36
NG_021409.1:g.255892A>T
NG_021409.2:g.255911A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313400.9:c.1016-22669A>T MANE Select	ENSP00000314038.4:n.1016-22669A>T
ENST00000361477.8:c.1015+50211A>T	ENSP00000355116.5:n.1015+50211A>T
ENST00000313400.8:c.1016-22669A>T	ENSP00000314038.4:n.1016-22669A>T
ENST00000361209.6:c.1015+50211A>T	ENSP00000354504.2:n.1015+50211A>T
ENST00000361477.7:c.-1677+50211A>T	ENSP00000355116.4:n.-1677+50211A>T
ENST00000373986.7:c.197-22669A>T	ENSP00000363098.3:n.197-22669A>T
NM_014010.4:c.1015+50211A>T	NP_054729.3:n.1015+50211A>T
NM_001365068.1:c.1016-22669A>T MANE Select	NP_001351997.1:n.1016-22669A>T
NM_001365069.1:c.1016-22669A>T	NP_001351998.1:n.1016-22669A>T
NM_014010.5:c.1015+50211A>T	NP_054729.3:n.1015+50211A>T