Canonical Allele Identifier: CA385095279

Gene: AMHR2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1211C>T MANE Select	ENSP00000257863.3:p.Ala404Val
ENST00000257863.8:c.1211C>T	ENSP00000257863.3:p.Ala404Val
ENST00000379791.7:c.1140+276C>T	ENSP00000369117.3:n.1140+276C>T
ENST00000550311.5:c.1211C>T	ENSP00000446661.1:p.Ala404Val
ENST00000550839.1:c.302C>T	ENSP00000455338.1:p.Ala101Val
ENST00000552233.5:n.799C>T
NM_001164690.1:c.1211C>T	NP_001158162.1:p.Ala404Val
NM_001164691.1:c.1140+276C>T	NP_001158163.1:n.1140+276C>T
NM_020547.2:c.1211C>T	NP_065434.1:p.Ala404Val
XM_011538173.1:c.1271C>T	XP_011536475.1:p.Ala424Val
XM_011538174.1:c.1268C>T	XP_011536476.1:p.Ala423Val
XM_011538175.1:c.1253C>T	XP_011536477.1:p.Ala418Val
XM_011538176.1:c.1214C>T	XP_011536478.1:p.Ala405Val
XM_011538177.1:c.1193C>T	XP_011536479.1:p.Ala398Val
XM_011538178.1:c.1052C>T	XP_011536480.1:p.Ala351Val
XM_011538179.1:c.1200+276C>T	XP_011536481.1:n.1200+276C>T
XM_011538180.1:c.938C>T	XP_011536482.1:p.Ala313Val
XM_011538181.1:c.935C>T	XP_011536483.1:p.Ala312Val
XM_011538182.1:c.860C>T	XP_011536484.1:p.Ala287Val
XM_011538183.1:c.1201-245C>T	XP_011536485.1:n.1201-245C>T
XM_011538184.1:c.1220+256C>T	XP_011536486.1:n.1220+256C>T
XM_011538185.1:c.856-1276C>T	XP_011536487.1:n.856-1276C>T
XM_011538186.1:c.386C>T	XP_011536488.1:p.Ala129Val
NM_001164690.2:c.1211C>T	NP_001158162.1:p.Ala404Val
NM_001164691.2:c.1140+276C>T	NP_001158163.1:n.1140+276C>T
NM_020547.3:c.1211C>T MANE Select	NP_065434.1:p.Ala404Val
XM_011538183.2:c.1201-245C>T	XP_011536485.1:n.1201-245C>T
XM_011538184.2:c.1220+256C>T	XP_011536486.1:n.1220+256C>T
XM_011538186.3:c.386C>T	XP_011536488.1:p.Ala129Val
XM_017019179.2:c.1271C>T	XP_016874668.1:p.Ala424Val
XM_024448938.1:c.1143+276C>T	XP_024304706.1:n.1143+276C>T
XR_002957309.1:n.1179C>T
XR_002957310.1:n.1109-245C>T
XR_002957311.1:n.1179C>T
XR_002957312.1:n.1108+276C>T