Canonical Allele Identifier: CA260163
Gene: AVPR2 HGNC NCBI
L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 35740
ClinVar RCV Id: RCV000029390
dbSNP Id: rs193922114
MyVariant Identifiers: chrX:g.153171384del (hg19) chrX:g.153905930del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153905930del , CM000685.2:g.153905930del GRCh38
NC_000023.10:g.153171384del , CM000685.1:g.153171384del GRCh37
NC_000023.9:g.152824578del NCBI36
NG_008687.1:g.5957del
NG_009645.3:g.8294del
NG_013220.1:g.25331del

Transcript Alleles

HGVS Amino-acid change
ENST00000646375.2:c.424del (AVPR2) MANE Select ENSP00000496396.1:p.Cys142AlafsTer20
ENST00000434679.6:c.26-89del (AVPR2) ENSP00000393397.1:n.26-89del
ENST00000642393.1:c.97+3140del
ENST00000646191.1:c.97+3140del
ENST00000646375.1:c.424del (AVPR2) ENSP00000496396.1:p.Cys142AlafsTer20
ENST00000337474.5:c.424del (AVPR2) ENSP00000338072.5:p.Cys142AlafsTer20
ENST00000358927.6:c.424del (AVPR2) ENSP00000351805.2:p.Cys142AlafsTer20
ENST00000370049.1:c.424del (AVPR2) ENSP00000359066.1:p.Cys142AlafsTer20
ENST00000430697.1:c.424del (AVPR2) ENSP00000393513.1:p.Cys142AlafsTer20
ENST00000434679.5:c.26-89del (AVPR2) ENSP00000393397.1:n.26-89del
ENST00000464967.5:n.154+3140del (L1CAM)
NM_000054.4:c.424del (AVPR2) NP_000045.1:p.Cys142AlafsTer20
NM_001146151.1:c.424del (AVPR2) NP_001139623.1:p.Cys142AlafsTer20
NR_027419.1:n.560-89del (AVPR2)
XM_006724828.2:c.424del (AVPR2) XP_006724891.1:p.Cys142AlafsTer20
NM_000054.5:c.424del (AVPR2) NP_000045.1:p.Cys142AlafsTer20
NM_001146151.2:c.424del (AVPR2) NP_001139623.1:p.Cys142AlafsTer20
XM_006724828.3:c.424del (AVPR2) XP_006724891.1:p.Cys142AlafsTer20
NM_000054.6:c.424del (AVPR2) NP_000045.1:p.Cys142AlafsTer20
NM_001146151.3:c.424del (AVPR2) NP_001139623.1:p.Cys142AlafsTer20
NR_027419.2:n.466-89del (AVPR2)
NM_000054.7:c.424del (AVPR2) MANE Select NP_000045.1:p.Cys142AlafsTer20
Search 100 bp 5'
Search 100 bp 3'