Canonical Allele Identifier: CA367669764

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242112G>A (hg19) ; chr7:g.70777126G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777126G>A , CM000669.2:g.70777126G>A	GRCh38
NC_000007.13:g.70242112G>A , CM000669.1:g.70242112G>A	GRCh37
NC_000007.12:g.69880048G>A	NCBI36
NG_034133.1:g.1183208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.24G>A	ENSP00000514784.1:p.Met8Ile
ENST00000342771.10:c.1956G>A MANE Select	ENSP00000344087.4:p.Met652Ile
ENST00000439256.2:c.54G>A	ENSP00000407058.2:p.Met18Ile
ENST00000443672.2:c.291G>A	ENSP00000393548.2:p.Met97Ile
ENST00000449547.6:c.49G>A
ENST00000464768.2:n.624G>A
ENST00000644359.1:c.537G>A	ENSP00000494561.1:p.Met179Ile
ENST00000644506.1:c.582G>A	ENSP00000496672.1:p.Met194Ile
ENST00000644939.1:c.1953G>A	ENSP00000496726.1:p.Met651Ile
ENST00000644949.1:c.287G>A
ENST00000646136.1:n.267G>A
ENST00000647140.1:c.821G>A
ENST00000342771.8:c.1956G>A	ENSP00000344087.4:p.Met652Ile
ENST00000406775.6:c.1884G>A	ENSP00000385263.2:p.Met628Ile
ENST00000439256.1:c.54G>A
ENST00000443672.1:c.536G>A
ENST00000464768.1:n.622G>A
ENST00000465899.1:n.453G>A
ENST00000498384.5:n.324G>A
ENST00000611706.4:c.1212G>A	ENSP00000478134.1:p.Met404Ile
ENST00000615871.4:c.1140G>A	ENSP00000479325.1:p.Met380Ile
NM_001127231.2:c.1884G>A	NP_001120703.1:p.Met628Ile
NM_015570.3:c.1956G>A	NP_056385.1:p.Met652Ile
XM_005250257.1:c.603G>A	XP_005250314.1:p.Met201Ile
XM_011516010.1:c.1977G>A	XP_011514312.1:p.Met659Ile
XM_011516011.1:c.1974G>A	XP_011514313.1:p.Met658Ile
XM_011516012.1:c.1911G>A	XP_011514314.1:p.Met637Ile
XM_011516013.1:c.1905G>A	XP_011514315.1:p.Met635Ile
XM_011516014.1:c.1875G>A	XP_011514316.1:p.Met625Ile
XM_011516015.1:c.1713G>A	XP_011514317.1:p.Met571Ile
XM_011516016.1:c.1686G>A	XP_011514318.1:p.Met562Ile
XM_011516017.1:c.1503G>A	XP_011514319.1:p.Met501Ile
XM_011516018.1:c.1476G>A	XP_011514320.1:p.Met492Ile
XM_005250257.2:c.603G>A	XP_005250314.1:p.Met201Ile
XM_011516010.2:c.1977G>A	XP_011514312.1:p.Met659Ile
XM_011516011.2:c.1974G>A	XP_011514313.1:p.Met658Ile
XM_011516012.2:c.1911G>A	XP_011514314.1:p.Met637Ile
XM_011516013.2:c.1905G>A	XP_011514315.1:p.Met635Ile
XM_011516014.2:c.1875G>A	XP_011514316.1:p.Met625Ile
XM_011516017.2:c.1503G>A	XP_011514319.1:p.Met501Ile
XM_011516018.2:c.1476G>A	XP_011514320.1:p.Met492Ile
XM_017011951.2:c.1977G>A	XP_016867440.1:p.Met659Ile
NM_001127231.3:c.1884G>A	NP_001120703.1:p.Met628Ile
NM_015570.4:c.1956G>A MANE Select	NP_056385.1:p.Met652Ile