Canonical Allele Identifier: CA367669717

Gene: AUTS2

Linked Data

• gnomAD v4: 7-70777106-C-T
• MyVariant Identifiers: chr7:g.70242092C>T (hg19) ; chr7:g.70777106C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.70777106C>T , CM000669.2:g.70777106C>T	GRCh38
NC_000007.13:g.70242092C>T , CM000669.1:g.70242092C>T	GRCh37
NC_000007.12:g.69880028C>T	NCBI36
NG_034133.1:g.1183188C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700075.1:c.4C>T	ENSP00000514784.1:p.Pro2Ser
ENST00000342771.10:c.1936C>T MANE Select	ENSP00000344087.4:p.Pro646Ser
ENST00000439256.2:c.34C>T	ENSP00000407058.2:p.Pro12Ser
ENST00000443672.2:c.271C>T	ENSP00000393548.2:p.Pro91Ser
ENST00000449547.6:c.29C>T
ENST00000464768.2:n.604C>T
ENST00000644359.1:c.517C>T	ENSP00000494561.1:p.Pro173Ser
ENST00000644506.1:c.562C>T	ENSP00000496672.1:p.Pro188Ser
ENST00000644939.1:c.1933C>T	ENSP00000496726.1:p.Pro645Ser
ENST00000644949.1:c.267C>T
ENST00000646136.1:n.247C>T
ENST00000647140.1:c.801C>T
ENST00000342771.8:c.1936C>T	ENSP00000344087.4:p.Pro646Ser
ENST00000406775.6:c.1864C>T	ENSP00000385263.2:p.Pro622Ser
ENST00000439256.1:c.34C>T
ENST00000443672.1:c.516C>T
ENST00000464768.1:n.602C>T
ENST00000465899.1:n.433C>T
ENST00000498384.5:n.304C>T
ENST00000611706.4:c.1192C>T	ENSP00000478134.1:p.Pro398Ser
ENST00000615871.4:c.1120C>T	ENSP00000479325.1:p.Pro374Ser
NM_001127231.2:c.1864C>T	NP_001120703.1:p.Pro622Ser
NM_015570.3:c.1936C>T	NP_056385.1:p.Pro646Ser
XM_005250257.1:c.583C>T	XP_005250314.1:p.Pro195Ser
XM_011516010.1:c.1957C>T	XP_011514312.1:p.Pro653Ser
XM_011516011.1:c.1954C>T	XP_011514313.1:p.Pro652Ser
XM_011516012.1:c.1891C>T	XP_011514314.1:p.Pro631Ser
XM_011516013.1:c.1885C>T	XP_011514315.1:p.Pro629Ser
XM_011516014.1:c.1855C>T	XP_011514316.1:p.Pro619Ser
XM_011516015.1:c.1693C>T	XP_011514317.1:p.Pro565Ser
XM_011516016.1:c.1666C>T	XP_011514318.1:p.Pro556Ser
XM_011516017.1:c.1483C>T	XP_011514319.1:p.Pro495Ser
XM_011516018.1:c.1456C>T	XP_011514320.1:p.Pro486Ser
XM_005250257.2:c.583C>T	XP_005250314.1:p.Pro195Ser
XM_011516010.2:c.1957C>T	XP_011514312.1:p.Pro653Ser
XM_011516011.2:c.1954C>T	XP_011514313.1:p.Pro652Ser
XM_011516012.2:c.1891C>T	XP_011514314.1:p.Pro631Ser
XM_011516013.2:c.1885C>T	XP_011514315.1:p.Pro629Ser
XM_011516014.2:c.1855C>T	XP_011514316.1:p.Pro619Ser
XM_011516017.2:c.1483C>T	XP_011514319.1:p.Pro495Ser
XM_011516018.2:c.1456C>T	XP_011514320.1:p.Pro486Ser
XM_017011951.2:c.1957C>T	XP_016867440.1:p.Pro653Ser
NM_001127231.3:c.1864C>T	NP_001120703.1:p.Pro622Ser
NM_015570.4:c.1936C>T MANE Select	NP_056385.1:p.Pro646Ser