Canonical Allele Identifier: CA367669758

Gene: AUTS2

Linked Data

• gnomAD v4: 7-70777124-A-C
• MyVariant Identifiers: chr7:g.70242110A>C (hg19) ; chr7:g.70777124A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777124A>C , CM000669.2:g.70777124A>C	GRCh38
NC_000007.13:g.70242110A>C , CM000669.1:g.70242110A>C	GRCh37
NC_000007.12:g.69880046A>C	NCBI36
NG_034133.1:g.1183206A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.22A>C	ENSP00000514784.1:p.Met8Leu
ENST00000342771.10:c.1954A>C MANE Select	ENSP00000344087.4:p.Met652Leu
ENST00000439256.2:c.52A>C	ENSP00000407058.2:p.Met18Leu
ENST00000443672.2:c.289A>C	ENSP00000393548.2:p.Met97Leu
ENST00000449547.6:c.47A>C
ENST00000464768.2:n.622A>C
ENST00000644359.1:c.535A>C	ENSP00000494561.1:p.Met179Leu
ENST00000644506.1:c.580A>C	ENSP00000496672.1:p.Met194Leu
ENST00000644939.1:c.1951A>C	ENSP00000496726.1:p.Met651Leu
ENST00000644949.1:c.285A>C
ENST00000646136.1:n.265A>C
ENST00000647140.1:c.819A>C
ENST00000342771.8:c.1954A>C	ENSP00000344087.4:p.Met652Leu
ENST00000406775.6:c.1882A>C	ENSP00000385263.2:p.Met628Leu
ENST00000439256.1:c.52A>C
ENST00000443672.1:c.534A>C
ENST00000464768.1:n.620A>C
ENST00000465899.1:n.451A>C
ENST00000498384.5:n.322A>C
ENST00000611706.4:c.1210A>C	ENSP00000478134.1:p.Met404Leu
ENST00000615871.4:c.1138A>C	ENSP00000479325.1:p.Met380Leu
NM_001127231.2:c.1882A>C	NP_001120703.1:p.Met628Leu
NM_015570.3:c.1954A>C	NP_056385.1:p.Met652Leu
XM_005250257.1:c.601A>C	XP_005250314.1:p.Met201Leu
XM_011516010.1:c.1975A>C	XP_011514312.1:p.Met659Leu
XM_011516011.1:c.1972A>C	XP_011514313.1:p.Met658Leu
XM_011516012.1:c.1909A>C	XP_011514314.1:p.Met637Leu
XM_011516013.1:c.1903A>C	XP_011514315.1:p.Met635Leu
XM_011516014.1:c.1873A>C	XP_011514316.1:p.Met625Leu
XM_011516015.1:c.1711A>C	XP_011514317.1:p.Met571Leu
XM_011516016.1:c.1684A>C	XP_011514318.1:p.Met562Leu
XM_011516017.1:c.1501A>C	XP_011514319.1:p.Met501Leu
XM_011516018.1:c.1474A>C	XP_011514320.1:p.Met492Leu
XM_005250257.2:c.601A>C	XP_005250314.1:p.Met201Leu
XM_011516010.2:c.1975A>C	XP_011514312.1:p.Met659Leu
XM_011516011.2:c.1972A>C	XP_011514313.1:p.Met658Leu
XM_011516012.2:c.1909A>C	XP_011514314.1:p.Met637Leu
XM_011516013.2:c.1903A>C	XP_011514315.1:p.Met635Leu
XM_011516014.2:c.1873A>C	XP_011514316.1:p.Met625Leu
XM_011516017.2:c.1501A>C	XP_011514319.1:p.Met501Leu
XM_011516018.2:c.1474A>C	XP_011514320.1:p.Met492Leu
XM_017011951.2:c.1975A>C	XP_016867440.1:p.Met659Leu
NM_001127231.3:c.1882A>C	NP_001120703.1:p.Met628Leu
NM_015570.4:c.1954A>C MANE Select	NP_056385.1:p.Met652Leu