Canonical Allele Identifier: CA385095348

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429919-T-C
• MyVariant Identifiers: chr12:g.53823703T>C (hg19) ; chr12:g.53429919T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429919T>C , CM000674.2:g.53429919T>C	GRCh38
NC_000012.11:g.53823703T>C , CM000674.1:g.53823703T>C	GRCh37
NC_000012.10:g.52109970T>C	NCBI36
NG_015981.1:g.11065T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000257863.9:c.1229T>C MANE Select	ENSP00000257863.3:p.Ile410Thr
ENST00000257863.8:c.1229T>C	ENSP00000257863.3:p.Ile410Thr
ENST00000379791.7:c.1140+294T>C	ENSP00000369117.3:n.1140+294T>C
ENST00000550311.5:c.1229T>C	ENSP00000446661.1:p.Ile410Thr
ENST00000550839.1:c.320T>C	ENSP00000455338.1:p.Ile107Thr
ENST00000552233.5:n.817T>C
NM_001164690.1:c.1229T>C	NP_001158162.1:p.Ile410Thr
NM_001164691.1:c.1140+294T>C	NP_001158163.1:n.1140+294T>C
NM_020547.2:c.1229T>C	NP_065434.1:p.Ile410Thr
XM_011538173.1:c.1289T>C	XP_011536475.1:p.Ile430Thr
XM_011538174.1:c.1286T>C	XP_011536476.1:p.Ile429Thr
XM_011538175.1:c.1271T>C	XP_011536477.1:p.Ile424Thr
XM_011538176.1:c.1232T>C	XP_011536478.1:p.Ile411Thr
XM_011538177.1:c.1211T>C	XP_011536479.1:p.Ile404Thr
XM_011538178.1:c.1070T>C	XP_011536480.1:p.Ile357Thr
XM_011538179.1:c.1200+294T>C	XP_011536481.1:n.1200+294T>C
XM_011538180.1:c.956T>C	XP_011536482.1:p.Ile319Thr
XM_011538181.1:c.953T>C	XP_011536483.1:p.Ile318Thr
XM_011538182.1:c.878T>C	XP_011536484.1:p.Ile293Thr
XM_011538183.1:c.1201-227T>C	XP_011536485.1:n.1201-227T>C
XM_011538184.1:c.1220+274T>C	XP_011536486.1:n.1220+274T>C
XM_011538185.1:c.856-1258T>C	XP_011536487.1:n.856-1258T>C
XM_011538186.1:c.404T>C	XP_011536488.1:p.Ile135Thr
NM_001164690.2:c.1229T>C	NP_001158162.1:p.Ile410Thr
NM_001164691.2:c.1140+294T>C	NP_001158163.1:n.1140+294T>C
NM_020547.3:c.1229T>C MANE Select	NP_065434.1:p.Ile410Thr
XM_011538183.2:c.1201-227T>C	XP_011536485.1:n.1201-227T>C
XM_011538184.2:c.1220+274T>C	XP_011536486.1:n.1220+274T>C
XM_011538186.3:c.404T>C	XP_011536488.1:p.Ile135Thr
XM_017019179.2:c.1289T>C	XP_016874668.1:p.Ile430Thr
XM_024448938.1:c.1143+294T>C	XP_024304706.1:n.1143+294T>C
XR_002957309.1:n.1197T>C
XR_002957310.1:n.1109-227T>C
XR_002957311.1:n.1197T>C
XR_002957312.1:n.1108+294T>C