Canonical Allele Identifier: CA385095958
Community Standard Title: NM_020547.3(AMHR2):c.1340C>T (p.Thr447Ile)
Gene: AMHR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53430197C>T , CM000674.2:g.53430197C>T GRCh38
NC_000012.11:g.53823981C>T , CM000674.1:g.53823981C>T GRCh37
NC_000012.10:g.52110248C>T NCBI36
NG_015981.1:g.11343C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020547.3:c.1340C>T MANE Select NP_065434.1:p.Thr447Ile
ENST00000257863.9:c.1340C>T MANE Select ENSP00000257863.3:p.Thr447Ile
NM_001164690.1:c.1336C>T NP_001158162.1:p.Pro446Ser
NM_001164690.2:c.1336C>T NP_001158162.1:p.Pro446Ser
NM_001164691.1:c.1140+572C>T NP_001158163.1:n.1140+572C>T
NM_001164691.2:c.1140+572C>T NP_001158163.1:n.1140+572C>T
NM_020547.2:c.1340C>T NP_065434.1:p.Thr447Ile
ENST00000257863.8:c.1340C>T ENSP00000257863.3:p.Thr447Ile
ENST00000379791.7:c.1140+572C>T ENSP00000369117.3:n.1140+572C>T
ENST00000550311.5:c.1336C>T ENSP00000446661.1:p.Pro446Ser
ENST00000550839.1:c.431C>T ENSP00000455338.1:p.Thr144Ile
ENST00000552233.5:n.1095C>T
XM_011538173.1:c.1400C>T XP_011536475.1:p.Thr467Ile
XM_011538174.1:c.1397C>T XP_011536476.1:p.Thr466Ile
XM_011538175.1:c.1382C>T XP_011536477.1:p.Thr461Ile
XM_011538176.1:c.1343C>T XP_011536478.1:p.Thr448Ile
XM_011538177.1:c.1322C>T XP_011536479.1:p.Thr441Ile
XM_011538178.1:c.1181C>T XP_011536480.1:p.Thr394Ile
XM_011538179.1:c.1200+572C>T XP_011536481.1:n.1200+572C>T
XM_011538180.1:c.1067C>T XP_011536482.1:p.Thr356Ile
XM_011538181.1:c.1064C>T XP_011536483.1:p.Thr355Ile
XM_011538182.1:c.989C>T XP_011536484.1:p.Thr330Ile
XM_011538183.1:c.1252C>T XP_011536485.1:p.Pro418Ser
XM_011538183.2:c.1252C>T XP_011536485.1:p.Pro418Ser
XM_011538184.1:c.1220+552C>T XP_011536486.1:n.1220+552C>T
XM_011538184.2:c.1220+552C>T XP_011536486.1:n.1220+552C>T
XM_011538185.1:c.856-980C>T XP_011536487.1:n.856-980C>T
XM_011538186.1:c.515C>T XP_011536488.1:p.Thr172Ile
XM_011538186.3:c.515C>T XP_011536488.1:p.Thr172Ile
XM_017019179.2:c.1348+219C>T XP_016874668.1:n.1348+219C>T
XM_024448938.1:c.1143+572C>T XP_024304706.1:n.1143+572C>T
XR_002957309.1:n.1308C>T
XR_002957310.1:n.1160C>T
XR_002957311.1:n.1256+219C>T
XR_002957312.1:n.1108+572C>T