Canonical Allele Identifier: CA385095280

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823685C>G (hg19) ; chr12:g.53429901C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429901C>G , CM000674.2:g.53429901C>G	GRCh38
NC_000012.11:g.53823685C>G , CM000674.1:g.53823685C>G	GRCh37
NC_000012.10:g.52109952C>G	NCBI36
NG_015981.1:g.11047C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1211C>G MANE Select	ENSP00000257863.3:p.Ala404Gly
ENST00000257863.8:c.1211C>G	ENSP00000257863.3:p.Ala404Gly
ENST00000379791.7:c.1140+276C>G	ENSP00000369117.3:n.1140+276C>G
ENST00000550311.5:c.1211C>G	ENSP00000446661.1:p.Ala404Gly
ENST00000550839.1:c.302C>G	ENSP00000455338.1:p.Ala101Gly
ENST00000552233.5:n.799C>G
NM_001164690.1:c.1211C>G	NP_001158162.1:p.Ala404Gly
NM_001164691.1:c.1140+276C>G	NP_001158163.1:n.1140+276C>G
NM_020547.2:c.1211C>G	NP_065434.1:p.Ala404Gly
XM_011538173.1:c.1271C>G	XP_011536475.1:p.Ala424Gly
XM_011538174.1:c.1268C>G	XP_011536476.1:p.Ala423Gly
XM_011538175.1:c.1253C>G	XP_011536477.1:p.Ala418Gly
XM_011538176.1:c.1214C>G	XP_011536478.1:p.Ala405Gly
XM_011538177.1:c.1193C>G	XP_011536479.1:p.Ala398Gly
XM_011538178.1:c.1052C>G	XP_011536480.1:p.Ala351Gly
XM_011538179.1:c.1200+276C>G	XP_011536481.1:n.1200+276C>G
XM_011538180.1:c.938C>G	XP_011536482.1:p.Ala313Gly
XM_011538181.1:c.935C>G	XP_011536483.1:p.Ala312Gly
XM_011538182.1:c.860C>G	XP_011536484.1:p.Ala287Gly
XM_011538183.1:c.1201-245C>G	XP_011536485.1:n.1201-245C>G
XM_011538184.1:c.1220+256C>G	XP_011536486.1:n.1220+256C>G
XM_011538185.1:c.856-1276C>G	XP_011536487.1:n.856-1276C>G
XM_011538186.1:c.386C>G	XP_011536488.1:p.Ala129Gly
NM_001164690.2:c.1211C>G	NP_001158162.1:p.Ala404Gly
NM_001164691.2:c.1140+276C>G	NP_001158163.1:n.1140+276C>G
NM_020547.3:c.1211C>G MANE Select	NP_065434.1:p.Ala404Gly
XM_011538183.2:c.1201-245C>G	XP_011536485.1:n.1201-245C>G
XM_011538184.2:c.1220+256C>G	XP_011536486.1:n.1220+256C>G
XM_011538186.3:c.386C>G	XP_011536488.1:p.Ala129Gly
XM_017019179.2:c.1271C>G	XP_016874668.1:p.Ala424Gly
XM_024448938.1:c.1143+276C>G	XP_024304706.1:n.1143+276C>G
XR_002957309.1:n.1179C>G
XR_002957310.1:n.1109-245C>G
XR_002957311.1:n.1179C>G
XR_002957312.1:n.1108+276C>G