Canonical Allele Identifier: CA065252
Community Standard Title: NM_013447.4(ADGRE2):c.1475G>A (p.Cys492Tyr)
Gene: ADGRE2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.14755069C>T , CM000681.2:g.14755069C>T GRCh38
NC_000019.9:g.14865881C>T , CM000681.1:g.14865881C>T GRCh37
NC_000019.8:g.14726881C>T NCBI36
NG_047146.1:g.28473G>A

Transcript Alleles

HGVS Amino-acid Change
NM_013447.4:c.1475G>A MANE Select NP_038475.2:p.Cys492Tyr
ENST00000315576.8:c.1475G>A MANE Select ENSP00000319883.3:p.Cys492Tyr
NM_001271052.1:c.1416+585G>A NP_001257981.1:n.1416+585G>A
NM_013447.3:c.1475G>A NP_038475.2:p.Cys492Tyr
ENST00000315576.7:c.1475G>A ENSP00000319883.3:p.Cys492Tyr
ENST00000360222.8:n.2078+1169G>A
ENST00000392962.3:c.1045+1169G>A ENSP00000376689.3:n.1045+1169G>A
ENST00000392965.7:c.1416+585G>A ENSP00000376692.3:n.1416+585G>A
ENST00000594076.5:c.1196G>A ENSP00000472735.1:p.Cys399Tyr
ENST00000594294.5:c.1328G>A ENSP00000470725.1:p.Cys443Tyr
ENST00000595208.5:c.782G>A
ENST00000595839.5:c.1049G>A ENSP00000469277.1:p.Cys350Tyr
ENST00000596991.6:c.1442G>A ENSP00000472280.2:p.Cys481Tyr
ENST00000601345.5:c.1442G>A ENSP00000471297.1:p.Cys481Tyr
XM_011527948.1:c.1475G>A XP_011526250.1:p.Cys492Tyr
XM_011527948.2:c.1475G>A XP_011526250.1:p.Cys492Tyr
XM_011527949.1:c.1442G>A XP_011526251.1:p.Cys481Tyr
XM_011527949.2:c.1442G>A XP_011526251.1:p.Cys481Tyr
XM_011527950.1:c.1475G>A XP_011526252.1:p.Cys492Tyr
XM_011527951.1:c.1328G>A XP_011526253.1:p.Cys443Tyr
XM_011527951.3:c.1328G>A XP_011526253.1:p.Cys443Tyr
XM_011527952.1:c.1416+585G>A XP_011526254.1:n.1416+585G>A
XM_011527952.3:c.1416+585G>A XP_011526254.1:n.1416+585G>A
XM_011527953.1:c.1196G>A XP_011526255.1:p.Cys399Tyr
XM_011527953.2:c.1196G>A XP_011526255.1:p.Cys399Tyr
XM_011527954.1:c.1136G>A XP_011526256.1:p.Cys379Tyr
XM_011527954.3:c.1136G>A XP_011526256.1:p.Cys379Tyr
XM_011527955.1:c.878G>A XP_011526257.1:p.Cys293Tyr
XM_011527955.2:c.878G>A XP_011526257.1:p.Cys293Tyr
XM_017026726.1:c.1358G>A XP_016882215.1:p.Cys453Tyr
XM_017026727.1:c.1236+585G>A XP_016882216.1:n.1236+585G>A
XR_001753674.1:n.1336G>A
XR_001753675.1:n.1189G>A
XR_936171.1:n.1336G>A
XR_936172.1:n.1189G>A
XR_936173.1:n.1277+1169G>A
XR_936174.1:n.1130+1169G>A