Canonical Allele Identifier: CA415106673

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 446891
• ClinVar RCV Id: RCV000517911 ; RCV002496990
• dbSNP Id: rs1557100711
• MyVariant Identifiers: chrX:g.153171463T>G (hg19) ; chrX:g.153906009T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906009T>G , CM000685.2:g.153906009T>G	GRCh38
NC_000023.10:g.153171463T>G , CM000685.1:g.153171463T>G	GRCh37
NC_000023.9:g.152824657T>G	NCBI36
NG_008687.1:g.6036T>G
NG_009645.3:g.8215A>C
NG_013220.1:g.25252A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.503T>G (AVPR2) MANE Select	ENSP00000496396.1:p.Leu168Arg
ENST00000434679.6:c.26-10T>G (AVPR2)	ENSP00000393397.1:n.26-10T>G
ENST00000642393.1:c.97+3061A>C
ENST00000646191.1:c.97+3061A>C
ENST00000646375.1:c.503T>G (AVPR2)	ENSP00000496396.1:p.Leu168Arg
ENST00000337474.5:c.503T>G (AVPR2)	ENSP00000338072.5:p.Leu168Arg
ENST00000358927.6:c.503T>G (AVPR2)	ENSP00000351805.2:p.Leu168Arg
ENST00000370049.1:c.503T>G (AVPR2)	ENSP00000359066.1:p.Leu168Arg
ENST00000430697.1:c.503T>G (AVPR2)	ENSP00000393513.1:p.Leu168Arg
ENST00000434679.5:c.26-10T>G (AVPR2)	ENSP00000393397.1:n.26-10T>G
ENST00000464967.5:n.154+3061A>C (L1CAM)
NM_000054.4:c.503T>G (AVPR2)	NP_000045.1:p.Leu168Arg
NM_001146151.1:c.503T>G (AVPR2)	NP_001139623.1:p.Leu168Arg
NR_027419.1:n.560-10T>G (AVPR2)
XM_006724828.2:c.503T>G (AVPR2)	XP_006724891.1:p.Leu168Arg
NM_000054.5:c.503T>G (AVPR2)	NP_000045.1:p.Leu168Arg
NM_001146151.2:c.503T>G (AVPR2)	NP_001139623.1:p.Leu168Arg
XM_006724828.3:c.503T>G (AVPR2)	XP_006724891.1:p.Leu168Arg
NM_000054.6:c.503T>G (AVPR2)	NP_000045.1:p.Leu168Arg
NM_001146151.3:c.503T>G (AVPR2)	NP_001139623.1:p.Leu168Arg
NR_027419.2:n.466-10T>G (AVPR2)
NM_000054.7:c.503T>G (AVPR2) MANE Select	NP_000045.1:p.Leu168Arg