Canonical Allele Identifier: CA2619053243

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429956-C-CCGCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429958_53429962dup , CM000674.2:g.53429958_53429962dup	GRCh38
NC_000012.11:g.53823742_53823746dup , CM000674.1:g.53823742_53823746dup	GRCh37
NC_000012.10:g.52110009_52110013dup	NCBI36
NG_015981.1:g.11104_11108dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1268_1272dup MANE Select	ENSP00000257863.3:p.Pro425AlafsTer5
ENST00000257863.8:c.1268_1272dup	ENSP00000257863.3:p.Pro425AlafsTer5
ENST00000379791.7:c.1140+333_1140+337dup	ENSP00000369117.3:n.1140+333_1140+337dup
ENST00000550311.5:c.1268_1272dup	ENSP00000446661.1:p.Pro425AlafsTer5
ENST00000550839.1:c.359_363dup	ENSP00000455338.1:p.Pro122AlafsTer5
ENST00000552233.5:n.856_860dup
NM_001164690.1:c.1268_1272dup	NP_001158162.1:p.Pro425AlafsTer5
NM_001164691.1:c.1140+333_1140+337dup	NP_001158163.1:n.1140+333_1140+337dup
NM_020547.2:c.1268_1272dup	NP_065434.1:p.Pro425AlafsTer5
XM_011538173.1:c.1328_1332dup	XP_011536475.1:p.Pro445AlafsTer5
XM_011538174.1:c.1325_1329dup	XP_011536476.1:p.Pro444AlafsTer5
XM_011538175.1:c.1310_1314dup	XP_011536477.1:p.Pro439AlafsTer5
XM_011538176.1:c.1271_1275dup	XP_011536478.1:p.Pro426AlafsTer5
XM_011538177.1:c.1250_1254dup	XP_011536479.1:p.Pro419AlafsTer5
XM_011538178.1:c.1109_1113dup	XP_011536480.1:p.Pro372AlafsTer5
XM_011538179.1:c.1200+333_1200+337dup	XP_011536481.1:n.1200+333_1200+337dup
XM_011538180.1:c.995_999dup	XP_011536482.1:p.Pro334AlafsTer5
XM_011538181.1:c.992_996dup	XP_011536483.1:p.Pro333AlafsTer5
XM_011538182.1:c.917_921dup	XP_011536484.1:p.Pro308AlafsTer5
XM_011538183.1:c.1201-188_1201-184dup	XP_011536485.1:n.1201-188_1201-184dup
XM_011538184.1:c.1220+313_1220+317dup	XP_011536486.1:n.1220+313_1220+317dup
XM_011538185.1:c.856-1219_856-1215dup	XP_011536487.1:n.856-1219_856-1215dup
XM_011538186.1:c.443_447dup	XP_011536488.1:p.Pro150AlafsTer5
NM_001164690.2:c.1268_1272dup	NP_001158162.1:p.Pro425AlafsTer5
NM_001164691.2:c.1140+333_1140+337dup	NP_001158163.1:n.1140+333_1140+337dup
NM_020547.3:c.1268_1272dup MANE Select	NP_065434.1:p.Pro425AlafsTer5
XM_011538183.2:c.1201-188_1201-184dup	XP_011536485.1:n.1201-188_1201-184dup
XM_011538184.2:c.1220+313_1220+317dup	XP_011536486.1:n.1220+313_1220+317dup
XM_011538186.3:c.443_447dup	XP_011536488.1:p.Pro150AlafsTer5
XM_017019179.2:c.1328_1332dup	XP_016874668.1:p.Pro445AlafsTer5
XM_024448938.1:c.1143+333_1143+337dup	XP_024304706.1:n.1143+333_1143+337dup
XR_002957309.1:n.1236_1240dup
XR_002957310.1:n.1109-188_1109-184dup
XR_002957311.1:n.1236_1240dup
XR_002957312.1:n.1108+333_1108+337dup