Canonical Allele Identifier: CA255573
Gene: AVPR2 HGNC NCBI
L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 10845
ClinVar RCV Id: RCV000011592 RCV001775540
dbSNP Id: rs104894754
MyVariant Identifiers: chrX:g.153171213G>A (hg19) chrX:g.153905759G>A (hg38)
PubMed: PMID:9369448
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153905759G>A , CM000685.2:g.153905759G>A GRCh38
NC_000023.10:g.153171213G>A , CM000685.1:g.153171213G>A GRCh37
NC_000023.9:g.152824407G>A NCBI36
NG_008687.1:g.5786G>A
NG_009645.3:g.8465C>T
NG_013220.1:g.25502C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000646375.2:c.253G>A (AVPR2) MANE Select ENSP00000496396.1:p.Asp85Asn
ENST00000434679.6:c.26-260G>A (AVPR2) ENSP00000393397.1:n.26-260G>A
ENST00000642393.1:c.97+3311C>T
ENST00000646191.1:c.97+3311C>T
ENST00000646375.1:c.253G>A (AVPR2) ENSP00000496396.1:p.Asp85Asn
ENST00000337474.5:c.253G>A (AVPR2) ENSP00000338072.5:p.Asp85Asn
ENST00000358927.6:c.253G>A (AVPR2) ENSP00000351805.2:p.Asp85Asn
ENST00000370049.1:c.253G>A (AVPR2) ENSP00000359066.1:p.Asp85Asn
ENST00000430697.1:c.253G>A (AVPR2) ENSP00000393513.1:p.Asp85Asn
ENST00000434679.5:c.26-260G>A (AVPR2) ENSP00000393397.1:n.26-260G>A
ENST00000464967.5:n.154+3311C>T (L1CAM)
NM_000054.4:c.253G>A (AVPR2) NP_000045.1:p.Asp85Asn
NM_001146151.1:c.253G>A (AVPR2) NP_001139623.1:p.Asp85Asn
NR_027419.1:n.560-260G>A (AVPR2)
XM_006724828.2:c.253G>A (AVPR2) XP_006724891.1:p.Asp85Asn
NM_000054.5:c.253G>A (AVPR2) NP_000045.1:p.Asp85Asn
NM_001146151.2:c.253G>A (AVPR2) NP_001139623.1:p.Asp85Asn
XM_006724828.3:c.253G>A (AVPR2) XP_006724891.1:p.Asp85Asn
NM_000054.6:c.253G>A (AVPR2) NP_000045.1:p.Asp85Asn
NM_001146151.3:c.253G>A (AVPR2) NP_001139623.1:p.Asp85Asn
NR_027419.2:n.466-260G>A (AVPR2)
NM_000054.7:c.253G>A (AVPR2) MANE Select NP_000045.1:p.Asp85Asn
Search 100 bp 5'
Search 100 bp 3'