Canonical Allele Identifier: CA9258141

Gene: ADGRE2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.14767008G>A , CM000681.2:g.14767008G>A	GRCh38
NC_000019.9:g.14877820G>A , CM000681.1:g.14877820G>A	GRCh37
NC_000019.8:g.14738820G>A	NCBI36
NG_047146.1:g.16534C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_013447.4:c.457C>T MANE Select	NP_038475.2:p.Leu153Phe
ENST00000315576.8:c.457C>T MANE Select	ENSP00000319883.3:p.Leu153Phe
NM_001271052.1:c.457C>T	NP_001257981.1:p.Leu153Phe
NM_013447.3:c.457C>T	NP_038475.2:p.Leu153Phe
ENST00000315576.7:c.457C>T	ENSP00000319883.3:p.Leu153Phe
ENST00000360222.8:n.913C>T
ENST00000392962.3:c.457C>T	ENSP00000376689.3:p.Leu153Phe
ENST00000392965.7:c.457C>T	ENSP00000376692.3:p.Leu153Phe
ENST00000594076.5:c.356-1204C>T	ENSP00000472735.1:n.356-1204C>T
ENST00000594294.5:c.457C>T	ENSP00000470725.1:p.Leu153Phe
ENST00000595208.5:c.135C>T
ENST00000595839.5:c.356-1438C>T	ENSP00000469277.1:n.356-1438C>T
ENST00000596991.6:c.457C>T	ENSP00000472280.2:p.Leu153Phe
ENST00000601345.5:c.457C>T	ENSP00000471297.1:p.Leu153Phe
XM_011527948.1:c.457C>T	XP_011526250.1:p.Leu153Phe
XM_011527948.2:c.457C>T	XP_011526250.1:p.Leu153Phe
XM_011527949.1:c.457C>T	XP_011526251.1:p.Leu153Phe
XM_011527949.2:c.457C>T	XP_011526251.1:p.Leu153Phe
XM_011527950.1:c.457C>T	XP_011526252.1:p.Leu153Phe
XM_011527951.1:c.457C>T	XP_011526253.1:p.Leu153Phe
XM_011527951.3:c.457C>T	XP_011526253.1:p.Leu153Phe
XM_011527952.1:c.457C>T	XP_011526254.1:p.Leu153Phe
XM_011527952.3:c.457C>T	XP_011526254.1:p.Leu153Phe
XM_011527953.1:c.356-1204C>T	XP_011526255.1:n.356-1204C>T
XM_011527953.2:c.356-1204C>T	XP_011526255.1:n.356-1204C>T
XM_011527954.1:c.118C>T	XP_011526256.1:p.Leu40Phe
XM_011527954.3:c.118C>T	XP_011526256.1:p.Leu40Phe
XM_017026726.1:c.340C>T	XP_016882215.1:p.Leu114Phe
XM_017026727.1:c.457C>T	XP_016882216.1:p.Leu153Phe
XR_001753674.1:n.542C>T
XR_001753675.1:n.542C>T
XR_936171.1:n.542C>T
XR_936172.1:n.542C>T
XR_936173.1:n.542C>T
XR_936174.1:n.542C>T