Canonical Allele Identifier: CA260161

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 35739
• ClinVar RCV Id: RCV000029389
• dbSNP Id: rs104894761
• MyVariant Identifiers: chrX:g.153171369C>G (hg19) ; chrX:g.153905915C>G (hg38)
• PubMed: PMID:19812297

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905915C>G , CM000685.2:g.153905915C>G	GRCh38
NC_000023.10:g.153171369C>G , CM000685.1:g.153171369C>G	GRCh37
NC_000023.9:g.152824563C>G	NCBI36
NG_008687.1:g.5942C>G
NG_009645.3:g.8309G>C
NG_013220.1:g.25346G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000646375.2:c.409C>G (AVPR2) MANE Select	ENSP00000496396.1:p.Arg137Gly
ENST00000434679.6:c.26-104C>G (AVPR2)	ENSP00000393397.1:n.26-104C>G
ENST00000642393.1:c.97+3155G>C
ENST00000646191.1:c.97+3155G>C
ENST00000646375.1:c.409C>G (AVPR2)	ENSP00000496396.1:p.Arg137Gly
ENST00000337474.5:c.409C>G (AVPR2)	ENSP00000338072.5:p.Arg137Gly
ENST00000358927.6:c.409C>G (AVPR2)	ENSP00000351805.2:p.Arg137Gly
ENST00000370049.1:c.409C>G (AVPR2)	ENSP00000359066.1:p.Arg137Gly
ENST00000430697.1:c.409C>G (AVPR2)	ENSP00000393513.1:p.Arg137Gly
ENST00000434679.5:c.26-104C>G (AVPR2)	ENSP00000393397.1:n.26-104C>G
ENST00000464967.5:n.154+3155G>C (L1CAM)
NM_000054.4:c.409C>G (AVPR2)	NP_000045.1:p.Arg137Gly
NM_001146151.1:c.409C>G (AVPR2)	NP_001139623.1:p.Arg137Gly
NR_027419.1:n.560-104C>G (AVPR2)
XM_006724828.2:c.409C>G (AVPR2)	XP_006724891.1:p.Arg137Gly
NM_000054.5:c.409C>G (AVPR2)	NP_000045.1:p.Arg137Gly
NM_001146151.2:c.409C>G (AVPR2)	NP_001139623.1:p.Arg137Gly
XM_006724828.3:c.409C>G (AVPR2)	XP_006724891.1:p.Arg137Gly
NM_000054.6:c.409C>G (AVPR2)	NP_000045.1:p.Arg137Gly
NM_001146151.3:c.409C>G (AVPR2)	NP_001139623.1:p.Arg137Gly
NR_027419.2:n.466-104C>G (AVPR2)
NM_000054.7:c.409C>G (AVPR2) MANE Select	NP_000045.1:p.Arg137Gly