Canonical Allele Identifier: CA2619053215
Gene: AMHR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429927_53429928del , CM000674.2:g.53429927_53429928del GRCh38
NC_000012.11:g.53823711_53823712del , CM000674.1:g.53823711_53823712del GRCh37
NC_000012.10:g.52109978_52109979del NCBI36
NG_015981.1:g.11073_11074del

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1237_1238del MANE Select ENSP00000257863.3:p.Leu413GlyfsTer17
ENST00000257863.8:c.1237_1238del ENSP00000257863.3:p.Leu413GlyfsTer17
ENST00000379791.7:c.1140+302_1140+303del ENSP00000369117.3:n.1140+302_1140+303del
ENST00000550311.5:c.1237_1238del ENSP00000446661.1:p.Leu413GlyfsTer?
ENST00000550839.1:c.328_329del ENSP00000455338.1:p.Leu110GlyfsTer17
ENST00000552233.5:n.825_826del
NM_001164690.1:c.1237_1238del NP_001158162.1:p.Leu413GlyfsTer?
NM_001164691.1:c.1140+302_1140+303del NP_001158163.1:n.1140+302_1140+303del
NM_020547.2:c.1237_1238del NP_065434.1:p.Leu413GlyfsTer17
XM_011538173.1:c.1297_1298del XP_011536475.1:p.Leu433GlyfsTer17
XM_011538174.1:c.1294_1295del XP_011536476.1:p.Leu432GlyfsTer17
XM_011538175.1:c.1279_1280del XP_011536477.1:p.Leu427GlyfsTer17
XM_011538176.1:c.1240_1241del XP_011536478.1:p.Leu414GlyfsTer17
XM_011538177.1:c.1219_1220del XP_011536479.1:p.Leu407GlyfsTer17
XM_011538178.1:c.1078_1079del XP_011536480.1:p.Leu360GlyfsTer17
XM_011538179.1:c.1200+302_1200+303del XP_011536481.1:n.1200+302_1200+303del
XM_011538180.1:c.964_965del XP_011536482.1:p.Leu322GlyfsTer17
XM_011538181.1:c.961_962del XP_011536483.1:p.Leu321GlyfsTer17
XM_011538182.1:c.886_887del XP_011536484.1:p.Leu296GlyfsTer17
XM_011538183.1:c.1201-219_1201-218del XP_011536485.1:n.1201-219_1201-218del
XM_011538184.1:c.1220+282_1220+283del XP_011536486.1:n.1220+282_1220+283del
XM_011538185.1:c.856-1250_856-1249del XP_011536487.1:n.856-1250_856-1249del
XM_011538186.1:c.412_413del XP_011536488.1:p.Leu138GlyfsTer17
NM_001164690.2:c.1237_1238del NP_001158162.1:p.Leu413GlyfsTer?
NM_001164691.2:c.1140+302_1140+303del NP_001158163.1:n.1140+302_1140+303del
NM_020547.3:c.1237_1238del MANE Select NP_065434.1:p.Leu413GlyfsTer17
XM_011538183.2:c.1201-219_1201-218del XP_011536485.1:n.1201-219_1201-218del
XM_011538184.2:c.1220+282_1220+283del XP_011536486.1:n.1220+282_1220+283del
XM_011538186.3:c.412_413del XP_011536488.1:p.Leu138GlyfsTer17
XM_017019179.2:c.1297_1298del XP_016874668.1:p.Leu433GlyfsTer22
XM_024448938.1:c.1143+302_1143+303del XP_024304706.1:n.1143+302_1143+303del
XR_002957309.1:n.1205_1206del
XR_002957310.1:n.1109-219_1109-218del
XR_002957311.1:n.1205_1206del
XR_002957312.1:n.1108+302_1108+303del