Canonical Allele Identifier: CA260173
Gene: AVPR2 HGNC NCBI
L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 35748
ClinVar RCV Id: RCV000029399
dbSNP Id: rs193922122
MyVariant Identifiers: chrX:g.153171813G>C (hg19) chrX:g.153906359G>C (hg38)
PubMed: PMID:8037205
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153906359G>C , CM000685.2:g.153906359G>C GRCh38
NC_000023.10:g.153171813G>C , CM000685.1:g.153171813G>C GRCh37
NC_000023.9:g.152825007G>C NCBI36
NG_008687.1:g.6386G>C
NG_009645.3:g.7865C>G
NG_013220.1:g.24902C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000646375.2:c.853G>C (AVPR2) MANE Select ENSP00000496396.1:p.Ala285Pro
ENST00000434679.6:c.*219G>C (AVPR2) ENSP00000393397.1:n.*219G>C
ENST00000642393.1:c.97+2711C>G
ENST00000646191.1:c.97+2711C>G
ENST00000646375.1:c.853G>C (AVPR2) ENSP00000496396.1:p.Ala285Pro
ENST00000337474.5:c.853G>C (AVPR2) ENSP00000338072.5:p.Ala285Pro
ENST00000358927.6:c.853G>C (AVPR2) ENSP00000351805.2:p.Ala285Pro
ENST00000370049.1:c.853G>C (AVPR2) ENSP00000359066.1:p.Ala285Pro
ENST00000430697.1:c.822+31G>C (AVPR2) ENSP00000393513.1:n.822+31G>C
ENST00000434679.5:c.*219G>C (AVPR2) ENSP00000393397.1:n.*219G>C
ENST00000464967.5:n.154+2711C>G (L1CAM)
NM_000054.4:c.853G>C (AVPR2) NP_000045.1:p.Ala285Pro
NM_001146151.1:c.853G>C (AVPR2) NP_001139623.1:p.Ala285Pro
NR_027419.1:n.900G>C (AVPR2)
XM_006724828.2:c.853G>C (AVPR2) XP_006724891.1:p.Ala285Pro
NM_000054.5:c.853G>C (AVPR2) NP_000045.1:p.Ala285Pro
NM_001146151.2:c.853G>C (AVPR2) NP_001139623.1:p.Ala285Pro
XM_006724828.3:c.853G>C (AVPR2) XP_006724891.1:p.Ala285Pro
NM_000054.6:c.853G>C (AVPR2) NP_000045.1:p.Ala285Pro
NM_001146151.3:c.853G>C (AVPR2) NP_001139623.1:p.Ala285Pro
NR_027419.2:n.806G>C (AVPR2)
NM_000054.7:c.853G>C (AVPR2) MANE Select NP_000045.1:p.Ala285Pro
Search 100 bp 5'
Search 100 bp 3'