Canonical Allele Identifier: CA415111790

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 3005194
• ClinVar RCV Id: RCV003868321
• MyVariant Identifiers: chrX:g.153172116C>T (hg19) ; chrX:g.153906662C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906662C>T , CM000685.2:g.153906662C>T	GRCh38
NC_000023.10:g.153172116C>T , CM000685.1:g.153172116C>T	GRCh37
NC_000023.9:g.152825310C>T	NCBI36
NG_008687.1:g.6689C>T
NG_009645.3:g.7562G>A
NG_013220.1:g.24599G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.1050C>T (AVPR2) MANE Select	ENSP00000496396.1:p.Ser350=
ENST00000434679.6:c.*416C>T (AVPR2)	ENSP00000393397.1:n.*416C>T
ENST00000642393.1:c.97+2408G>A
ENST00000646191.1:c.97+2408G>A
ENST00000646375.1:c.1050C>T (AVPR2)	ENSP00000496396.1:p.Ser350=
ENST00000337474.5:c.1050C>T (AVPR2)	ENSP00000338072.5:p.Ser350=
ENST00000358927.6:c.1050C>T (AVPR2)	ENSP00000351805.2:p.Ser350=
ENST00000370049.1:c.*226C>T (AVPR2)	ENSP00000359066.1:n.*226C>T
ENST00000430697.1:c.962C>T (AVPR2)	ENSP00000393513.1:p.Ala321Val
ENST00000434679.5:c.*416C>T (AVPR2)	ENSP00000393397.1:n.*416C>T
ENST00000464967.5:n.154+2408G>A (L1CAM)
NM_000054.4:c.1050C>T (AVPR2)	NP_000045.1:p.Ser350=
NM_001146151.1:c.*226C>T (AVPR2)	NP_001139623.1:n.*226C>T
NR_027419.1:n.1097C>T (AVPR2)
XM_006724828.2:c.1050C>T (AVPR2)	XP_006724891.1:p.Ser350=
NM_000054.5:c.1050C>T (AVPR2)	NP_000045.1:p.Ser350=
NM_001146151.2:c.*226C>T (AVPR2)	NP_001139623.1:n.*226C>T
XM_006724828.3:c.1050C>T (AVPR2)	XP_006724891.1:p.Ser350=
NM_000054.6:c.1050C>T (AVPR2)	NP_000045.1:p.Ser350=
NM_001146151.3:c.*226C>T (AVPR2)	NP_001139623.1:n.*226C>T
NR_027419.2:n.1003C>T (AVPR2)
NM_000054.7:c.1050C>T (AVPR2) MANE Select	NP_000045.1:p.Ser350=