Canonical Allele Identifier: CA367669754

Gene: AUTS2

Linked Data

• MyVariant Identifiers: chr7:g.70242107G>T (hg19) ; chr7:g.70777121G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777121G>T , CM000669.2:g.70777121G>T	GRCh38
NC_000007.13:g.70242107G>T , CM000669.1:g.70242107G>T	GRCh37
NC_000007.12:g.69880043G>T	NCBI36
NG_034133.1:g.1183203G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700075.1:c.19G>T	ENSP00000514784.1:p.Ala7Ser
ENST00000342771.10:c.1951G>T MANE Select	ENSP00000344087.4:p.Ala651Ser
ENST00000439256.2:c.49G>T	ENSP00000407058.2:p.Ala17Ser
ENST00000443672.2:c.286G>T	ENSP00000393548.2:p.Ala96Ser
ENST00000449547.6:c.44G>T
ENST00000464768.2:n.619G>T
ENST00000644359.1:c.532G>T	ENSP00000494561.1:p.Ala178Ser
ENST00000644506.1:c.577G>T	ENSP00000496672.1:p.Ala193Ser
ENST00000644939.1:c.1948G>T	ENSP00000496726.1:p.Ala650Ser
ENST00000644949.1:c.282G>T
ENST00000646136.1:n.262G>T
ENST00000647140.1:c.816G>T
ENST00000342771.8:c.1951G>T	ENSP00000344087.4:p.Ala651Ser
ENST00000406775.6:c.1879G>T	ENSP00000385263.2:p.Ala627Ser
ENST00000439256.1:c.49G>T
ENST00000443672.1:c.531G>T
ENST00000464768.1:n.617G>T
ENST00000465899.1:n.448G>T
ENST00000498384.5:n.319G>T
ENST00000611706.4:c.1207G>T	ENSP00000478134.1:p.Ala403Ser
ENST00000615871.4:c.1135G>T	ENSP00000479325.1:p.Ala379Ser
NM_001127231.2:c.1879G>T	NP_001120703.1:p.Ala627Ser
NM_015570.3:c.1951G>T	NP_056385.1:p.Ala651Ser
XM_005250257.1:c.598G>T	XP_005250314.1:p.Ala200Ser
XM_011516010.1:c.1972G>T	XP_011514312.1:p.Ala658Ser
XM_011516011.1:c.1969G>T	XP_011514313.1:p.Ala657Ser
XM_011516012.1:c.1906G>T	XP_011514314.1:p.Ala636Ser
XM_011516013.1:c.1900G>T	XP_011514315.1:p.Ala634Ser
XM_011516014.1:c.1870G>T	XP_011514316.1:p.Ala624Ser
XM_011516015.1:c.1708G>T	XP_011514317.1:p.Ala570Ser
XM_011516016.1:c.1681G>T	XP_011514318.1:p.Ala561Ser
XM_011516017.1:c.1498G>T	XP_011514319.1:p.Ala500Ser
XM_011516018.1:c.1471G>T	XP_011514320.1:p.Ala491Ser
XM_005250257.2:c.598G>T	XP_005250314.1:p.Ala200Ser
XM_011516010.2:c.1972G>T	XP_011514312.1:p.Ala658Ser
XM_011516011.2:c.1969G>T	XP_011514313.1:p.Ala657Ser
XM_011516012.2:c.1906G>T	XP_011514314.1:p.Ala636Ser
XM_011516013.2:c.1900G>T	XP_011514315.1:p.Ala634Ser
XM_011516014.2:c.1870G>T	XP_011514316.1:p.Ala624Ser
XM_011516017.2:c.1498G>T	XP_011514319.1:p.Ala500Ser
XM_011516018.2:c.1471G>T	XP_011514320.1:p.Ala491Ser
XM_017011951.2:c.1972G>T	XP_016867440.1:p.Ala658Ser
NM_001127231.3:c.1879G>T	NP_001120703.1:p.Ala627Ser
NM_015570.4:c.1951G>T MANE Select	NP_056385.1:p.Ala651Ser