Canonical Allele Identifier: CA2619052737

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429656-GGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429661_53429663del , CM000674.2:g.53429661_53429663del	GRCh38
NC_000012.11:g.53823445_53823447del , CM000674.1:g.53823445_53823447del	GRCh37
NC_000012.10:g.52109712_52109714del	NCBI36
NG_015981.1:g.10807_10809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1140+36_1140+38del MANE Select	ENSP00000257863.3:n.1140+36_1140+38del
ENST00000257863.8:c.1140+36_1140+38del	ENSP00000257863.3:n.1140+36_1140+38del
ENST00000379791.7:c.1140+36_1140+38del	ENSP00000369117.3:n.1140+36_1140+38del
ENST00000550311.5:c.1140+36_1140+38del	ENSP00000446661.1:n.1140+36_1140+38del
ENST00000550839.1:c.231+36_231+38del	ENSP00000455338.1:n.231+36_231+38del
ENST00000552233.5:n.559_561del
NM_001164690.1:c.1140+36_1140+38del	NP_001158162.1:n.1140+36_1140+38del
NM_001164691.1:c.1140+36_1140+38del	NP_001158163.1:n.1140+36_1140+38del
NM_020547.2:c.1140+36_1140+38del	NP_065434.1:n.1140+36_1140+38del
XM_011538173.1:c.1200+36_1200+38del	XP_011536475.1:n.1200+36_1200+38del
XM_011538174.1:c.1197+36_1197+38del	XP_011536476.1:n.1197+36_1197+38del
XM_011538175.1:c.1182+36_1182+38del	XP_011536477.1:n.1182+36_1182+38del
XM_011538176.1:c.1143+36_1143+38del	XP_011536478.1:n.1143+36_1143+38del
XM_011538177.1:c.1122+36_1122+38del	XP_011536479.1:n.1122+36_1122+38del
XM_011538178.1:c.981+36_981+38del	XP_011536480.1:n.981+36_981+38del
XM_011538179.1:c.1200+36_1200+38del	XP_011536481.1:n.1200+36_1200+38del
XM_011538180.1:c.867+36_867+38del	XP_011536482.1:n.867+36_867+38del
XM_011538181.1:c.864+36_864+38del	XP_011536483.1:n.864+36_864+38del
XM_011538182.1:c.789+36_789+38del	XP_011536484.1:n.789+36_789+38del
XM_011538183.1:c.1200+36_1200+38del	XP_011536485.1:n.1200+36_1200+38del
XM_011538184.1:c.1220+16_1220+18del	XP_011536486.1:n.1220+16_1220+18del
XM_011538185.1:c.856-1516_856-1514del	XP_011536487.1:n.856-1516_856-1514del
XM_011538186.1:c.315+36_315+38del	XP_011536488.1:n.315+36_315+38del
NM_001164690.2:c.1140+36_1140+38del	NP_001158162.1:n.1140+36_1140+38del
NM_001164691.2:c.1140+36_1140+38del	NP_001158163.1:n.1140+36_1140+38del
NM_020547.3:c.1140+36_1140+38del MANE Select	NP_065434.1:n.1140+36_1140+38del
XM_011538183.2:c.1200+36_1200+38del	XP_011536485.1:n.1200+36_1200+38del
XM_011538184.2:c.1220+16_1220+18del	XP_011536486.1:n.1220+16_1220+18del
XM_011538186.3:c.315+36_315+38del	XP_011536488.1:n.315+36_315+38del
XM_017019179.2:c.1200+36_1200+38del	XP_016874668.1:n.1200+36_1200+38del
XM_024448938.1:c.1143+36_1143+38del	XP_024304706.1:n.1143+36_1143+38del
XR_002957309.1:n.1108+36_1108+38del
XR_002957310.1:n.1108+36_1108+38del
XR_002957311.1:n.1108+36_1108+38del
XR_002957312.1:n.1108+36_1108+38del