Canonical Allele Identifier: CA10555073

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 441086
• ClinVar RCV Id: RCV000509119 ; RCV003987573
• dbSNP Id: rs111643041
• ExAC: X:153171757 T / C
• gnomAD v2: X-153171757-T-C
• gnomAD v3: X-153906303-T-C
• gnomAD v4: X-153906303-T-C
• MyVariant Identifiers: chrX:g.153171757T>C (hg19) ; chrX:g.153906303T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906303T>C , CM000685.2:g.153906303T>C	GRCh38
NC_000023.10:g.153171757T>C , CM000685.1:g.153171757T>C	GRCh37
NC_000023.9:g.152824951T>C	NCBI36
NG_008687.1:g.6330T>C
NG_009645.3:g.7921A>G
NG_013220.1:g.24958A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.797T>C (AVPR2) MANE Select	ENSP00000496396.1:p.Val266Ala
ENST00000434679.6:c.*163T>C (AVPR2)	ENSP00000393397.1:n.*163T>C
ENST00000642393.1:c.97+2767A>G
ENST00000646191.1:c.97+2767A>G
ENST00000646375.1:c.797T>C (AVPR2)	ENSP00000496396.1:p.Val266Ala
ENST00000337474.5:c.797T>C (AVPR2)	ENSP00000338072.5:p.Val266Ala
ENST00000358927.6:c.797T>C (AVPR2)	ENSP00000351805.2:p.Val266Ala
ENST00000370049.1:c.797T>C (AVPR2)	ENSP00000359066.1:p.Val266Ala
ENST00000430697.1:c.797T>C (AVPR2)	ENSP00000393513.1:p.Val266Ala
ENST00000434679.5:c.*163T>C (AVPR2)	ENSP00000393397.1:n.*163T>C
ENST00000464967.5:n.154+2767A>G (L1CAM)
NM_000054.4:c.797T>C (AVPR2)	NP_000045.1:p.Val266Ala
NM_001146151.1:c.797T>C (AVPR2)	NP_001139623.1:p.Val266Ala
NR_027419.1:n.844T>C (AVPR2)
XM_006724828.2:c.797T>C (AVPR2)	XP_006724891.1:p.Val266Ala
NM_000054.5:c.797T>C (AVPR2)	NP_000045.1:p.Val266Ala
NM_001146151.2:c.797T>C (AVPR2)	NP_001139623.1:p.Val266Ala
XM_006724828.3:c.797T>C (AVPR2)	XP_006724891.1:p.Val266Ala
NM_000054.6:c.797T>C (AVPR2)	NP_000045.1:p.Val266Ala
NM_001146151.3:c.797T>C (AVPR2)	NP_001139623.1:p.Val266Ala
NR_027419.2:n.750T>C (AVPR2)
NM_000054.7:c.797T>C (AVPR2) MANE Select	NP_000045.1:p.Val266Ala