Canonical Allele Identifier: CA385095092

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823640C>T (hg19) ; chr12:g.53429856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429856C>T , CM000674.2:g.53429856C>T	GRCh38
NC_000012.11:g.53823640C>T , CM000674.1:g.53823640C>T	GRCh37
NC_000012.10:g.52109907C>T	NCBI36
NG_015981.1:g.11002C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1166C>T MANE Select	ENSP00000257863.3:p.Pro389Leu
ENST00000257863.8:c.1166C>T	ENSP00000257863.3:p.Pro389Leu
ENST00000379791.7:c.1140+231C>T	ENSP00000369117.3:n.1140+231C>T
ENST00000550311.5:c.1166C>T	ENSP00000446661.1:p.Pro389Leu
ENST00000550839.1:c.257C>T	ENSP00000455338.1:p.Pro86Leu
ENST00000552233.5:n.754C>T
NM_001164690.1:c.1166C>T	NP_001158162.1:p.Pro389Leu
NM_001164691.1:c.1140+231C>T	NP_001158163.1:n.1140+231C>T
NM_020547.2:c.1166C>T	NP_065434.1:p.Pro389Leu
XM_011538173.1:c.1226C>T	XP_011536475.1:p.Pro409Leu
XM_011538174.1:c.1223C>T	XP_011536476.1:p.Pro408Leu
XM_011538175.1:c.1208C>T	XP_011536477.1:p.Pro403Leu
XM_011538176.1:c.1169C>T	XP_011536478.1:p.Pro390Leu
XM_011538177.1:c.1148C>T	XP_011536479.1:p.Pro383Leu
XM_011538178.1:c.1007C>T	XP_011536480.1:p.Pro336Leu
XM_011538179.1:c.1200+231C>T	XP_011536481.1:n.1200+231C>T
XM_011538180.1:c.893C>T	XP_011536482.1:p.Pro298Leu
XM_011538181.1:c.890C>T	XP_011536483.1:p.Pro297Leu
XM_011538182.1:c.815C>T	XP_011536484.1:p.Pro272Leu
XM_011538183.1:c.1200+231C>T	XP_011536485.1:n.1200+231C>T
XM_011538184.1:c.1220+211C>T	XP_011536486.1:n.1220+211C>T
XM_011538185.1:c.856-1321C>T	XP_011536487.1:n.856-1321C>T
XM_011538186.1:c.341C>T	XP_011536488.1:p.Pro114Leu
NM_001164690.2:c.1166C>T	NP_001158162.1:p.Pro389Leu
NM_001164691.2:c.1140+231C>T	NP_001158163.1:n.1140+231C>T
NM_020547.3:c.1166C>T MANE Select	NP_065434.1:p.Pro389Leu
XM_011538183.2:c.1200+231C>T	XP_011536485.1:n.1200+231C>T
XM_011538184.2:c.1220+211C>T	XP_011536486.1:n.1220+211C>T
XM_011538186.3:c.341C>T	XP_011536488.1:p.Pro114Leu
XM_017019179.2:c.1226C>T	XP_016874668.1:p.Pro409Leu
XM_024448938.1:c.1143+231C>T	XP_024304706.1:n.1143+231C>T
XR_002957309.1:n.1134C>T
XR_002957310.1:n.1108+231C>T
XR_002957311.1:n.1134C>T
XR_002957312.1:n.1108+231C>T