Canonical Allele Identifier: CA385095602

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823760C>T (hg19) ; chr12:g.53429976C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429976C>T , CM000674.2:g.53429976C>T	GRCh38
NC_000012.11:g.53823760C>T , CM000674.1:g.53823760C>T	GRCh37
NC_000012.10:g.52110027C>T	NCBI36
NG_015981.1:g.11122C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1286C>T MANE Select	ENSP00000257863.3:p.Pro429Leu
ENST00000257863.8:c.1286C>T	ENSP00000257863.3:p.Pro429Leu
ENST00000379791.7:c.1140+351C>T	ENSP00000369117.3:n.1140+351C>T
ENST00000550311.5:c.1286C>T	ENSP00000446661.1:p.Pro429Leu
ENST00000550839.1:c.377C>T	ENSP00000455338.1:p.Pro126Leu
ENST00000552233.5:n.874C>T
NM_001164690.1:c.1286C>T	NP_001158162.1:p.Pro429Leu
NM_001164691.1:c.1140+351C>T	NP_001158163.1:n.1140+351C>T
NM_020547.2:c.1286C>T	NP_065434.1:p.Pro429Leu
XM_011538173.1:c.1346C>T	XP_011536475.1:p.Pro449Leu
XM_011538174.1:c.1343C>T	XP_011536476.1:p.Pro448Leu
XM_011538175.1:c.1328C>T	XP_011536477.1:p.Pro443Leu
XM_011538176.1:c.1289C>T	XP_011536478.1:p.Pro430Leu
XM_011538177.1:c.1268C>T	XP_011536479.1:p.Pro423Leu
XM_011538178.1:c.1127C>T	XP_011536480.1:p.Pro376Leu
XM_011538179.1:c.1200+351C>T	XP_011536481.1:n.1200+351C>T
XM_011538180.1:c.1013C>T	XP_011536482.1:p.Pro338Leu
XM_011538181.1:c.1010C>T	XP_011536483.1:p.Pro337Leu
XM_011538182.1:c.935C>T	XP_011536484.1:p.Pro312Leu
XM_011538183.1:c.1201-170C>T	XP_011536485.1:n.1201-170C>T
XM_011538184.1:c.1220+331C>T	XP_011536486.1:n.1220+331C>T
XM_011538185.1:c.856-1201C>T	XP_011536487.1:n.856-1201C>T
XM_011538186.1:c.461C>T	XP_011536488.1:p.Pro154Leu
NM_001164690.2:c.1286C>T	NP_001158162.1:p.Pro429Leu
NM_001164691.2:c.1140+351C>T	NP_001158163.1:n.1140+351C>T
NM_020547.3:c.1286C>T MANE Select	NP_065434.1:p.Pro429Leu
XM_011538183.2:c.1201-170C>T	XP_011536485.1:n.1201-170C>T
XM_011538184.2:c.1220+331C>T	XP_011536486.1:n.1220+331C>T
XM_011538186.3:c.461C>T	XP_011536488.1:p.Pro154Leu
XM_017019179.2:c.1346C>T	XP_016874668.1:p.Pro449Leu
XM_024448938.1:c.1143+351C>T	XP_024304706.1:n.1143+351C>T
XR_002957309.1:n.1254C>T
XR_002957310.1:n.1109-170C>T
XR_002957311.1:n.1254C>T
XR_002957312.1:n.1108+351C>T