Canonical Allele Identifier: CA6600259
Community Standard Title: NM_020547.3(AMHR2):c.232+1G>A
Gene: AMHR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53424471G>A , CM000674.2:g.53424471G>A GRCh38
NC_000012.11:g.53818255G>A , CM000674.1:g.53818255G>A GRCh37
NC_000012.10:g.52104522G>A NCBI36
NG_015981.1:g.5617G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020547.3:c.232+1G>A MANE Select NP_065434.1:n.232+1G>A
ENST00000257863.9:c.232+1G>A MANE Select ENSP00000257863.3:n.232+1G>A
NM_001164690.1:c.232+1G>A NP_001158162.1:n.232+1G>A
NM_001164690.2:c.232+1G>A NP_001158162.1:n.232+1G>A
NM_001164691.1:c.232+1G>A NP_001158163.1:n.232+1G>A
NM_001164691.2:c.232+1G>A NP_001158163.1:n.232+1G>A
NM_020547.2:c.232+1G>A NP_065434.1:n.232+1G>A
ENST00000257863.8:c.232+1G>A ENSP00000257863.3:n.232+1G>A
ENST00000379791.7:c.232+1G>A ENSP00000369117.3:n.232+1G>A
ENST00000550311.5:c.232+1G>A ENSP00000446661.1:n.232+1G>A
ENST00000553037.1:n.193+1G>A
XM_011538173.1:c.232+1G>A XP_011536475.1:n.232+1G>A
XM_011538174.1:c.232+1G>A XP_011536476.1:n.232+1G>A
XM_011538175.1:c.232+1G>A XP_011536477.1:n.232+1G>A
XM_011538176.1:c.232+1G>A XP_011536478.1:n.232+1G>A
XM_011538177.1:c.232+1G>A XP_011536479.1:n.232+1G>A
XM_011538178.1:c.232+1G>A XP_011536480.1:n.232+1G>A
XM_011538179.1:c.232+1G>A XP_011536481.1:n.232+1G>A
XM_011538180.1:c.-16+1G>A XP_011536482.1:n.-16+1G>A
XM_011538181.1:c.-16+1G>A XP_011536483.1:n.-16+1G>A
XM_011538182.1:c.-16+1G>A XP_011536484.1:n.-16+1G>A
XM_011538183.1:c.232+1G>A XP_011536485.1:n.232+1G>A
XM_011538183.2:c.232+1G>A XP_011536485.1:n.232+1G>A
XM_011538184.1:c.232+1G>A XP_011536486.1:n.232+1G>A
XM_011538184.2:c.232+1G>A XP_011536486.1:n.232+1G>A
XM_011538185.1:c.232+1G>A XP_011536487.1:n.232+1G>A
XM_011538187.1:c.232+1G>A XP_011536489.1:n.232+1G>A
XM_017019179.2:c.232+1G>A XP_016874668.1:n.232+1G>A
XM_024448938.1:c.232+1G>A XP_024304706.1:n.232+1G>A
XR_002957309.1:n.312+1G>A
XR_002957310.1:n.312+1G>A
XR_002957311.1:n.312+1G>A
XR_002957312.1:n.312+1G>A