Canonical Allele Identifier: CA6600601
Community Standard Title: NM_020547.3(AMHR2):c.1412G>A (p.Arg471His)
Gene: AMHR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53430269G>A , CM000674.2:g.53430269G>A GRCh38
NC_000012.11:g.53824053G>A , CM000674.1:g.53824053G>A GRCh37
NC_000012.10:g.52110320G>A NCBI36
NG_015981.1:g.11415G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020547.3:c.1412G>A MANE Select NP_065434.1:p.Arg471His
ENST00000257863.9:c.1412G>A MANE Select ENSP00000257863.3:p.Arg471His
NM_001164690.1:c.1408G>A NP_001158162.1:p.Ala470Thr
NM_001164690.2:c.1408G>A NP_001158162.1:p.Ala470Thr
NM_001164691.1:c.1140+644G>A NP_001158163.1:n.1140+644G>A
NM_001164691.2:c.1140+644G>A NP_001158163.1:n.1140+644G>A
NM_020547.2:c.1412G>A NP_065434.1:p.Arg471His
ENST00000257863.8:c.1412G>A ENSP00000257863.3:p.Arg471His
ENST00000379791.7:c.1140+644G>A ENSP00000369117.3:n.1140+644G>A
ENST00000550311.5:c.1408G>A ENSP00000446661.1:p.Ala470Thr
ENST00000550839.1:c.503G>A ENSP00000455338.1:p.Arg168His
ENST00000552233.5:n.1167G>A
XM_011538173.1:c.1472G>A XP_011536475.1:p.Arg491His
XM_011538174.1:c.1469G>A XP_011536476.1:p.Arg490His
XM_011538175.1:c.1454G>A XP_011536477.1:p.Arg485His
XM_011538176.1:c.1415G>A XP_011536478.1:p.Arg472His
XM_011538177.1:c.1394G>A XP_011536479.1:p.Arg465His
XM_011538178.1:c.1253G>A XP_011536480.1:p.Arg418His
XM_011538179.1:c.1200+644G>A XP_011536481.1:n.1200+644G>A
XM_011538180.1:c.1139G>A XP_011536482.1:p.Arg380His
XM_011538181.1:c.1136G>A XP_011536483.1:p.Arg379His
XM_011538182.1:c.1061G>A XP_011536484.1:p.Arg354His
XM_011538183.1:c.1324G>A XP_011536485.1:p.Ala442Thr
XM_011538183.2:c.1324G>A XP_011536485.1:p.Ala442Thr
XM_011538184.1:c.1220+624G>A XP_011536486.1:n.1220+624G>A
XM_011538184.2:c.1220+624G>A XP_011536486.1:n.1220+624G>A
XM_011538185.1:c.856-908G>A XP_011536487.1:n.856-908G>A
XM_011538186.1:c.587G>A XP_011536488.1:p.Arg196His
XM_011538186.3:c.587G>A XP_011536488.1:p.Arg196His
XM_017019179.2:c.1348+291G>A XP_016874668.1:n.1348+291G>A
XM_024448938.1:c.1143+644G>A XP_024304706.1:n.1143+644G>A
XR_002957309.1:n.1380G>A
XR_002957310.1:n.1232G>A
XR_002957311.1:n.1256+291G>A
XR_002957312.1:n.1108+644G>A