Canonical Allele Identifier: CA16621526
Gene: AVPR2 HGNC NCBI
L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 424624
ClinVar RCV Id: RCV000487458
dbSNP Id: rs1064797077
MyVariant Identifiers: chrX:g.153171838G>A (hg19) chrX:g.153906384G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153906384G>A , CM000685.2:g.153906384G>A GRCh38
NC_000023.10:g.153171838G>A , CM000685.1:g.153171838G>A GRCh37
NC_000023.9:g.152825032G>A NCBI36
NG_008687.1:g.6411G>A
NG_009645.3:g.7840C>T
NG_013220.1:g.24877C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000646375.2:c.878G>A (AVPR2) MANE Select ENSP00000496396.1:p.Trp293Ter
ENST00000434679.6:c.*244G>A (AVPR2) ENSP00000393397.1:n.*244G>A
ENST00000642393.1:c.97+2686C>T
ENST00000646191.1:c.97+2686C>T
ENST00000646375.1:c.878G>A (AVPR2) ENSP00000496396.1:p.Trp293Ter
ENST00000337474.5:c.878G>A (AVPR2) ENSP00000338072.5:p.Trp293Ter
ENST00000358927.6:c.878G>A (AVPR2) ENSP00000351805.2:p.Trp293Ter
ENST00000370049.1:c.878G>A (AVPR2) ENSP00000359066.1:p.Trp293Ter
ENST00000430697.1:c.822+56G>A (AVPR2) ENSP00000393513.1:n.822+56G>A
ENST00000434679.5:c.*244G>A (AVPR2) ENSP00000393397.1:n.*244G>A
ENST00000464967.5:n.154+2686C>T (L1CAM)
NM_000054.4:c.878G>A (AVPR2) NP_000045.1:p.Trp293Ter
NM_001146151.1:c.878G>A (AVPR2) NP_001139623.1:p.Trp293Ter
NR_027419.1:n.925G>A (AVPR2)
XM_006724828.2:c.878G>A (AVPR2) XP_006724891.1:p.Trp293Ter
NM_000054.5:c.878G>A (AVPR2) NP_000045.1:p.Trp293Ter
NM_001146151.2:c.878G>A (AVPR2) NP_001139623.1:p.Trp293Ter
XM_006724828.3:c.878G>A (AVPR2) XP_006724891.1:p.Trp293Ter
NM_000054.6:c.878G>A (AVPR2) NP_000045.1:p.Trp293Ter
NM_001146151.3:c.878G>A (AVPR2) NP_001139623.1:p.Trp293Ter
NR_027419.2:n.831G>A (AVPR2)
NM_000054.7:c.878G>A (AVPR2) MANE Select NP_000045.1:p.Trp293Ter
Search 100 bp 5'
Search 100 bp 3'