Canonical Allele Identifier: CA367669821

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242136T>G (hg19) ; chr7:g.70777150T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777150T>G , CM000669.2:g.70777150T>G	GRCh38
NC_000007.13:g.70242136T>G , CM000669.1:g.70242136T>G	GRCh37
NC_000007.12:g.69880072T>G	NCBI36
NG_034133.1:g.1183232T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.48T>G	ENSP00000514784.1:p.Ile16Met
ENST00000342771.10:c.1980T>G MANE Select	ENSP00000344087.4:p.Ile660Met
ENST00000439256.2:c.78T>G	ENSP00000407058.2:p.Ile26Met
ENST00000443672.2:c.315T>G	ENSP00000393548.2:p.Ile105Met
ENST00000449547.6:c.73T>G
ENST00000464768.2:n.648T>G
ENST00000644359.1:c.561T>G	ENSP00000494561.1:p.Ile187Met
ENST00000644506.1:c.606T>G	ENSP00000496672.1:p.Ile202Met
ENST00000644939.1:c.1977T>G	ENSP00000496726.1:p.Ile659Met
ENST00000646136.1:n.291T>G
ENST00000647140.1:c.845T>G
ENST00000342771.8:c.1980T>G	ENSP00000344087.4:p.Ile660Met
ENST00000406775.6:c.1908T>G	ENSP00000385263.2:p.Ile636Met
ENST00000439256.1:c.78T>G
ENST00000464768.1:n.646T>G
ENST00000465899.1:n.477T>G
ENST00000498384.5:n.348T>G
ENST00000611706.4:c.1236T>G	ENSP00000478134.1:p.Ile412Met
ENST00000615871.4:c.1164T>G	ENSP00000479325.1:p.Ile388Met
NM_001127231.2:c.1908T>G	NP_001120703.1:p.Ile636Met
NM_015570.3:c.1980T>G	NP_056385.1:p.Ile660Met
XM_005250257.1:c.627T>G	XP_005250314.1:p.Ile209Met
XM_011516010.1:c.2001T>G	XP_011514312.1:p.Ile667Met
XM_011516011.1:c.1998T>G	XP_011514313.1:p.Ile666Met
XM_011516012.1:c.1935T>G	XP_011514314.1:p.Ile645Met
XM_011516013.1:c.1929T>G	XP_011514315.1:p.Ile643Met
XM_011516014.1:c.1899T>G	XP_011514316.1:p.Ile633Met
XM_011516015.1:c.1737T>G	XP_011514317.1:p.Ile579Met
XM_011516016.1:c.1710T>G	XP_011514318.1:p.Ile570Met
XM_011516017.1:c.1527T>G	XP_011514319.1:p.Ile509Met
XM_011516018.1:c.1500T>G	XP_011514320.1:p.Ile500Met
XM_005250257.2:c.627T>G	XP_005250314.1:p.Ile209Met
XM_011516010.2:c.2001T>G	XP_011514312.1:p.Ile667Met
XM_011516011.2:c.1998T>G	XP_011514313.1:p.Ile666Met
XM_011516012.2:c.1935T>G	XP_011514314.1:p.Ile645Met
XM_011516013.2:c.1929T>G	XP_011514315.1:p.Ile643Met
XM_011516014.2:c.1899T>G	XP_011514316.1:p.Ile633Met
XM_011516017.2:c.1527T>G	XP_011514319.1:p.Ile509Met
XM_011516018.2:c.1500T>G	XP_011514320.1:p.Ile500Met
XM_017011951.2:c.2001T>G	XP_016867440.1:p.Ile667Met
NM_001127231.3:c.1908T>G	NP_001120703.1:p.Ile636Met
NM_015570.4:c.1980T>G MANE Select	NP_056385.1:p.Ile660Met