Canonical Allele Identifier: CA367669810
Gene: AUTS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70777145C>A , CM000669.2:g.70777145C>A GRCh38
NC_000007.13:g.70242131C>A , CM000669.1:g.70242131C>A GRCh37
NC_000007.12:g.69880067C>A NCBI36
NG_034133.1:g.1183227C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000700075.1:c.43C>A ENSP00000514784.1:p.Gln15Lys
ENST00000342771.10:c.1975C>A MANE Select ENSP00000344087.4:p.Gln659Lys
ENST00000439256.2:c.73C>A ENSP00000407058.2:p.Gln25Lys
ENST00000443672.2:c.310C>A ENSP00000393548.2:p.Gln104Lys
ENST00000449547.6:c.68C>A
ENST00000464768.2:n.643C>A
ENST00000644359.1:c.556C>A ENSP00000494561.1:p.Gln186Lys
ENST00000644506.1:c.601C>A ENSP00000496672.1:p.Gln201Lys
ENST00000644939.1:c.1972C>A ENSP00000496726.1:p.Gln658Lys
ENST00000646136.1:n.286C>A
ENST00000647140.1:c.840C>A
ENST00000342771.8:c.1975C>A ENSP00000344087.4:p.Gln659Lys
ENST00000406775.6:c.1903C>A ENSP00000385263.2:p.Gln635Lys
ENST00000439256.1:c.73C>A
ENST00000464768.1:n.641C>A
ENST00000465899.1:n.472C>A
ENST00000498384.5:n.343C>A
ENST00000611706.4:c.1231C>A ENSP00000478134.1:p.Gln411Lys
ENST00000615871.4:c.1159C>A ENSP00000479325.1:p.Gln387Lys
NM_001127231.2:c.1903C>A NP_001120703.1:p.Gln635Lys
NM_015570.3:c.1975C>A NP_056385.1:p.Gln659Lys
XM_005250257.1:c.622C>A XP_005250314.1:p.Gln208Lys
XM_011516010.1:c.1996C>A XP_011514312.1:p.Gln666Lys
XM_011516011.1:c.1993C>A XP_011514313.1:p.Gln665Lys
XM_011516012.1:c.1930C>A XP_011514314.1:p.Gln644Lys
XM_011516013.1:c.1924C>A XP_011514315.1:p.Gln642Lys
XM_011516014.1:c.1894C>A XP_011514316.1:p.Gln632Lys
XM_011516015.1:c.1732C>A XP_011514317.1:p.Gln578Lys
XM_011516016.1:c.1705C>A XP_011514318.1:p.Gln569Lys
XM_011516017.1:c.1522C>A XP_011514319.1:p.Gln508Lys
XM_011516018.1:c.1495C>A XP_011514320.1:p.Gln499Lys
XM_005250257.2:c.622C>A XP_005250314.1:p.Gln208Lys
XM_011516010.2:c.1996C>A XP_011514312.1:p.Gln666Lys
XM_011516011.2:c.1993C>A XP_011514313.1:p.Gln665Lys
XM_011516012.2:c.1930C>A XP_011514314.1:p.Gln644Lys
XM_011516013.2:c.1924C>A XP_011514315.1:p.Gln642Lys
XM_011516014.2:c.1894C>A XP_011514316.1:p.Gln632Lys
XM_011516017.2:c.1522C>A XP_011514319.1:p.Gln508Lys
XM_011516018.2:c.1495C>A XP_011514320.1:p.Gln499Lys
XM_017011951.2:c.1996C>A XP_016867440.1:p.Gln666Lys
NM_001127231.3:c.1903C>A NP_001120703.1:p.Gln635Lys
NM_015570.4:c.1975C>A MANE Select NP_056385.1:p.Gln659Lys