Canonical Allele Identifier: CA10554907

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs782726046
• ExAC: X:153170610 C / T
• gnomAD v2: X-153170610-C-T
• gnomAD v3: X-153905156-C-T
• gnomAD v4: X-153905156-C-T
• MyVariant Identifiers: chrX:g.153170610C>T (hg19) ; chrX:g.153905156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905156C>T , CM000685.2:g.153905156C>T	GRCh38
NC_000023.10:g.153170610C>T , CM000685.1:g.153170610C>T	GRCh37
NC_000023.9:g.152823804C>T	NCBI36
NG_008687.1:g.5183C>T
NG_009645.3:g.9068G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.11C>T (AVPR2) MANE Select	ENSP00000496396.1:p.Ala4Val
ENST00000434679.6:c.11C>T (AVPR2)	ENSP00000393397.1:p.Ala4Val
ENST00000642393.1:c.97+3914G>A
ENST00000646191.1:c.97+3914G>A
ENST00000646375.1:c.11C>T (AVPR2)	ENSP00000496396.1:p.Ala4Val
ENST00000337474.5:c.11C>T (AVPR2)	ENSP00000338072.5:p.Ala4Val
ENST00000358927.6:c.11C>T (AVPR2)	ENSP00000351805.2:p.Ala4Val
ENST00000370049.1:c.11C>T (AVPR2)	ENSP00000359066.1:p.Ala4Val
ENST00000430697.1:c.11C>T (AVPR2)	ENSP00000393513.1:p.Ala4Val
ENST00000434679.5:c.11C>T (AVPR2)	ENSP00000393397.1:p.Ala4Val
ENST00000464967.5:n.154+3914G>A (L1CAM)
NM_000054.4:c.11C>T (AVPR2)	NP_000045.1:p.Ala4Val
NM_001146151.1:c.11C>T (AVPR2)	NP_001139623.1:p.Ala4Val
NR_027419.1:n.545C>T (AVPR2)
XM_006724828.2:c.11C>T (AVPR2)	XP_006724891.1:p.Ala4Val
NM_000054.5:c.11C>T (AVPR2)	NP_000045.1:p.Ala4Val
NM_001146151.2:c.11C>T (AVPR2)	NP_001139623.1:p.Ala4Val
XM_006724828.3:c.11C>T (AVPR2)	XP_006724891.1:p.Ala4Val
NM_000054.6:c.11C>T (AVPR2)	NP_000045.1:p.Ala4Val
NM_001146151.3:c.11C>T (AVPR2)	NP_001139623.1:p.Ala4Val
NR_027419.2:n.451C>T (AVPR2)
NM_000054.7:c.11C>T (AVPR2) MANE Select	NP_000045.1:p.Ala4Val