Canonical Allele Identifier: CA10555080

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 914620
• ClinVar RCV Id: RCV001168872
• dbSNP Id: rs781801367
• ExAC: X:153171797 C / G
• gnomAD v2: X-153171797-C-G
• gnomAD v3: X-153906343-C-G
• gnomAD v4: X-153906343-C-G
• MyVariant Identifiers: chrX:g.153171797C>G (hg19) ; chrX:g.153906343C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906343C>G , CM000685.2:g.153906343C>G	GRCh38
NC_000023.10:g.153171797C>G , CM000685.1:g.153171797C>G	GRCh37
NC_000023.9:g.152824991C>G	NCBI36
NG_008687.1:g.6370C>G
NG_009645.3:g.7881G>C
NG_013220.1:g.24918G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.837C>G (AVPR2) MANE Select	ENSP00000496396.1:p.Val279=
ENST00000434679.6:c.*203C>G (AVPR2)	ENSP00000393397.1:n.*203C>G
ENST00000642393.1:c.97+2727G>C
ENST00000646191.1:c.97+2727G>C
ENST00000646375.1:c.837C>G (AVPR2)	ENSP00000496396.1:p.Val279=
ENST00000337474.5:c.837C>G (AVPR2)	ENSP00000338072.5:p.Val279=
ENST00000358927.6:c.837C>G (AVPR2)	ENSP00000351805.2:p.Val279=
ENST00000370049.1:c.837C>G (AVPR2)	ENSP00000359066.1:p.Val279=
ENST00000430697.1:c.822+15C>G (AVPR2)	ENSP00000393513.1:n.822+15C>G
ENST00000434679.5:c.*203C>G (AVPR2)	ENSP00000393397.1:n.*203C>G
ENST00000464967.5:n.154+2727G>C (L1CAM)
NM_000054.4:c.837C>G (AVPR2)	NP_000045.1:p.Val279=
NM_001146151.1:c.837C>G (AVPR2)	NP_001139623.1:p.Val279=
NR_027419.1:n.884C>G (AVPR2)
XM_006724828.2:c.837C>G (AVPR2)	XP_006724891.1:p.Val279=
NM_000054.5:c.837C>G (AVPR2)	NP_000045.1:p.Val279=
NM_001146151.2:c.837C>G (AVPR2)	NP_001139623.1:p.Val279=
XM_006724828.3:c.837C>G (AVPR2)	XP_006724891.1:p.Val279=
NM_000054.6:c.837C>G (AVPR2)	NP_000045.1:p.Val279=
NM_001146151.3:c.837C>G (AVPR2)	NP_001139623.1:p.Val279=
NR_027419.2:n.790C>G (AVPR2)
NM_000054.7:c.837C>G (AVPR2) MANE Select	NP_000045.1:p.Val279=