Canonical Allele Identifier: CA456057847

Gene: AUTS2

Linked Data

• dbSNP Id: rs1374517922
• gnomAD v2: 7-69064855-C-A
• MyVariant Identifiers: chr7:g.69064855C>A (hg19) ; chr7:g.69599869C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.69599869C>A , CM000669.2:g.69599869C>A	GRCh38
NC_000007.13:g.69064855C>A , CM000669.1:g.69064855C>A	GRCh37
NC_000007.12:g.68702791C>A	NCBI36
NG_034133.1:g.5951C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342771.10:c.216C>A MANE Select	ENSP00000344087.4:p.Pro72=
ENST00000403018.3:c.216C>A	ENSP00000385572.2:p.Pro72=
ENST00000644939.1:c.216C>A	ENSP00000496726.1:p.Pro72=
ENST00000342771.8:c.216C>A	ENSP00000344087.4:p.Pro72=
ENST00000403018.2:c.216C>A	ENSP00000385572.2:p.Pro72=
ENST00000406775.6:c.216C>A	ENSP00000385263.2:p.Pro72=
NM_001127231.2:c.216C>A	NP_001120703.1:p.Pro72=
NM_001127232.2:c.216C>A	NP_001120704.1:p.Pro72=
NM_015570.3:c.216C>A	NP_056385.1:p.Pro72=
XM_011516010.1:c.216C>A	XP_011514312.1:p.Pro72=
XM_011516011.1:c.216C>A	XP_011514313.1:p.Pro72=
XM_011516012.1:c.216C>A	XP_011514314.1:p.Pro72=
XM_011516013.1:c.216C>A	XP_011514315.1:p.Pro72=
XM_011516014.1:c.216C>A	XP_011514316.1:p.Pro72=
XM_011516015.1:c.216C>A	XP_011514317.1:p.Pro72=
XM_011516010.2:c.216C>A	XP_011514312.1:p.Pro72=
XM_011516011.2:c.216C>A	XP_011514313.1:p.Pro72=
XM_011516012.2:c.216C>A	XP_011514314.1:p.Pro72=
XM_011516013.2:c.216C>A	XP_011514315.1:p.Pro72=
XM_011516014.2:c.216C>A	XP_011514316.1:p.Pro72=
XM_017011951.2:c.216C>A	XP_016867440.1:p.Pro72=
NM_001127231.3:c.216C>A	NP_001120703.1:p.Pro72=
NM_001127232.3:c.216C>A	NP_001120704.1:p.Pro72=
NM_015570.4:c.216C>A MANE Select	NP_056385.1:p.Pro72=