Canonical Allele Identifier: CA605244041

Gene: AMHR2

Linked Data

• dbSNP Id: rs1383532976
• gnomAD v2: 12-53823607-C-T
• gnomAD v4: 12-53429823-C-T
• MyVariant Identifiers: chr12:g.53823607C>T (hg19) ; chr12:g.53429823C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429823C>T , CM000674.2:g.53429823C>T	GRCh38
NC_000012.11:g.53823607C>T , CM000674.1:g.53823607C>T	GRCh37
NC_000012.10:g.52109874C>T	NCBI36
NG_015981.1:g.10969C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257863.9:c.1141-8C>T MANE Select	ENSP00000257863.3:n.1141-8C>T
ENST00000257863.8:c.1141-8C>T	ENSP00000257863.3:n.1141-8C>T
ENST00000379791.7:c.1140+198C>T	ENSP00000369117.3:n.1140+198C>T
ENST00000550311.5:c.1141-8C>T	ENSP00000446661.1:n.1141-8C>T
ENST00000550839.1:c.232-8C>T	ENSP00000455338.1:n.232-8C>T
ENST00000552233.5:n.721C>T
NM_001164690.1:c.1141-8C>T	NP_001158162.1:n.1141-8C>T
NM_001164691.1:c.1140+198C>T	NP_001158163.1:n.1140+198C>T
NM_020547.2:c.1141-8C>T	NP_065434.1:n.1141-8C>T
XM_011538173.1:c.1201-8C>T	XP_011536475.1:n.1201-8C>T
XM_011538174.1:c.1198-8C>T	XP_011536476.1:n.1198-8C>T
XM_011538175.1:c.1183-8C>T	XP_011536477.1:n.1183-8C>T
XM_011538176.1:c.1144-8C>T	XP_011536478.1:n.1144-8C>T
XM_011538177.1:c.1123-8C>T	XP_011536479.1:n.1123-8C>T
XM_011538178.1:c.982-8C>T	XP_011536480.1:n.982-8C>T
XM_011538179.1:c.1200+198C>T	XP_011536481.1:n.1200+198C>T
XM_011538180.1:c.868-8C>T	XP_011536482.1:n.868-8C>T
XM_011538181.1:c.865-8C>T	XP_011536483.1:n.865-8C>T
XM_011538182.1:c.790-8C>T	XP_011536484.1:n.790-8C>T
XM_011538183.1:c.1200+198C>T	XP_011536485.1:n.1200+198C>T
XM_011538184.1:c.1220+178C>T	XP_011536486.1:n.1220+178C>T
XM_011538185.1:c.856-1354C>T	XP_011536487.1:n.856-1354C>T
XM_011538186.1:c.316-8C>T	XP_011536488.1:n.316-8C>T
NM_001164690.2:c.1141-8C>T	NP_001158162.1:n.1141-8C>T
NM_001164691.2:c.1140+198C>T	NP_001158163.1:n.1140+198C>T
NM_020547.3:c.1141-8C>T MANE Select	NP_065434.1:n.1141-8C>T
XM_011538183.2:c.1200+198C>T	XP_011536485.1:n.1200+198C>T
XM_011538184.2:c.1220+178C>T	XP_011536486.1:n.1220+178C>T
XM_011538186.3:c.316-8C>T	XP_011536488.1:n.316-8C>T
XM_017019179.2:c.1201-8C>T	XP_016874668.1:n.1201-8C>T
XM_024448938.1:c.1143+198C>T	XP_024304706.1:n.1143+198C>T
XR_002957309.1:n.1109-8C>T
XR_002957310.1:n.1108+198C>T
XR_002957311.1:n.1109-8C>T
XR_002957312.1:n.1108+198C>T