Canonical Allele Identifier: CA385095367

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429924-T-C
• MyVariant Identifiers: chr12:g.53823708T>C (hg19) ; chr12:g.53429924T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429924T>C , CM000674.2:g.53429924T>C	GRCh38
NC_000012.11:g.53823708T>C , CM000674.1:g.53823708T>C	GRCh37
NC_000012.10:g.52109975T>C	NCBI36
NG_015981.1:g.11070T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1234T>C MANE Select	ENSP00000257863.3:p.Ser412Pro
ENST00000257863.8:c.1234T>C	ENSP00000257863.3:p.Ser412Pro
ENST00000379791.7:c.1140+299T>C	ENSP00000369117.3:n.1140+299T>C
ENST00000550311.5:c.1234T>C	ENSP00000446661.1:p.Ser412Pro
ENST00000550839.1:c.325T>C	ENSP00000455338.1:p.Ser109Pro
ENST00000552233.5:n.822T>C
NM_001164690.1:c.1234T>C	NP_001158162.1:p.Ser412Pro
NM_001164691.1:c.1140+299T>C	NP_001158163.1:n.1140+299T>C
NM_020547.2:c.1234T>C	NP_065434.1:p.Ser412Pro
XM_011538173.1:c.1294T>C	XP_011536475.1:p.Ser432Pro
XM_011538174.1:c.1291T>C	XP_011536476.1:p.Ser431Pro
XM_011538175.1:c.1276T>C	XP_011536477.1:p.Ser426Pro
XM_011538176.1:c.1237T>C	XP_011536478.1:p.Ser413Pro
XM_011538177.1:c.1216T>C	XP_011536479.1:p.Ser406Pro
XM_011538178.1:c.1075T>C	XP_011536480.1:p.Ser359Pro
XM_011538179.1:c.1200+299T>C	XP_011536481.1:n.1200+299T>C
XM_011538180.1:c.961T>C	XP_011536482.1:p.Ser321Pro
XM_011538181.1:c.958T>C	XP_011536483.1:p.Ser320Pro
XM_011538182.1:c.883T>C	XP_011536484.1:p.Ser295Pro
XM_011538183.1:c.1201-222T>C	XP_011536485.1:n.1201-222T>C
XM_011538184.1:c.1220+279T>C	XP_011536486.1:n.1220+279T>C
XM_011538185.1:c.856-1253T>C	XP_011536487.1:n.856-1253T>C
XM_011538186.1:c.409T>C	XP_011536488.1:p.Ser137Pro
NM_001164690.2:c.1234T>C	NP_001158162.1:p.Ser412Pro
NM_001164691.2:c.1140+299T>C	NP_001158163.1:n.1140+299T>C
NM_020547.3:c.1234T>C MANE Select	NP_065434.1:p.Ser412Pro
XM_011538183.2:c.1201-222T>C	XP_011536485.1:n.1201-222T>C
XM_011538184.2:c.1220+279T>C	XP_011536486.1:n.1220+279T>C
XM_011538186.3:c.409T>C	XP_011536488.1:p.Ser137Pro
XM_017019179.2:c.1294T>C	XP_016874668.1:p.Ser432Pro
XM_024448938.1:c.1143+299T>C	XP_024304706.1:n.1143+299T>C
XR_002957309.1:n.1202T>C
XR_002957310.1:n.1109-222T>C
XR_002957311.1:n.1202T>C
XR_002957312.1:n.1108+299T>C