Canonical Allele Identifier: CA255570

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 10843
• ClinVar RCV Id: RCV000011590 ; RCV003556001
• dbSNP Id: rs104894752
• MyVariant Identifiers: chrX:g.153171799A>G (hg19) ; chrX:g.153906345A>G (hg38)
• PubMed: PMID:8078903

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906345A>G , CM000685.2:g.153906345A>G	GRCh38
NC_000023.10:g.153171799A>G , CM000685.1:g.153171799A>G	GRCh37
NC_000023.9:g.152824993A>G	NCBI36
NG_008687.1:g.6372A>G
NG_009645.3:g.7879T>C
NG_013220.1:g.24916T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.839A>G (AVPR2) MANE Select	ENSP00000496396.1:p.Tyr280Cys
ENST00000434679.6:c.*205A>G (AVPR2)	ENSP00000393397.1:n.*205A>G
ENST00000642393.1:c.97+2725T>C
ENST00000646191.1:c.97+2725T>C
ENST00000646375.1:c.839A>G (AVPR2)	ENSP00000496396.1:p.Tyr280Cys
ENST00000337474.5:c.839A>G (AVPR2)	ENSP00000338072.5:p.Tyr280Cys
ENST00000358927.6:c.839A>G (AVPR2)	ENSP00000351805.2:p.Tyr280Cys
ENST00000370049.1:c.839A>G (AVPR2)	ENSP00000359066.1:p.Tyr280Cys
ENST00000430697.1:c.822+17A>G (AVPR2)	ENSP00000393513.1:n.822+17A>G
ENST00000434679.5:c.*205A>G (AVPR2)	ENSP00000393397.1:n.*205A>G
ENST00000464967.5:n.154+2725T>C (L1CAM)
NM_000054.4:c.839A>G (AVPR2)	NP_000045.1:p.Tyr280Cys
NM_001146151.1:c.839A>G (AVPR2)	NP_001139623.1:p.Tyr280Cys
NR_027419.1:n.886A>G (AVPR2)
XM_006724828.2:c.839A>G (AVPR2)	XP_006724891.1:p.Tyr280Cys
NM_000054.5:c.839A>G (AVPR2)	NP_000045.1:p.Tyr280Cys
NM_001146151.2:c.839A>G (AVPR2)	NP_001139623.1:p.Tyr280Cys
XM_006724828.3:c.839A>G (AVPR2)	XP_006724891.1:p.Tyr280Cys
NM_000054.6:c.839A>G (AVPR2)	NP_000045.1:p.Tyr280Cys
NM_001146151.3:c.839A>G (AVPR2)	NP_001139623.1:p.Tyr280Cys
NR_027419.2:n.792A>G (AVPR2)
NM_000054.7:c.839A>G (AVPR2) MANE Select	NP_000045.1:p.Tyr280Cys