Canonical Allele Identifier: CA10554936

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 254772
• ClinVar RCV Id: RCV000242524 ; RCV000325895 ; RCV000576631 ; RCV001553951 ; RCV001725140
• dbSNP Id: rs56689668
• ExAC: X:153170980 T / G
• gnomAD v2: X-153170980-T-G
• gnomAD v3: X-153905526-T-G
• gnomAD v4: X-153905526-T-G
• MyVariant Identifiers: chrX:g.153170980T>G (hg19) ; chrX:g.153905526T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905526T>G , CM000685.2:g.153905526T>G	GRCh38
NC_000023.10:g.153170980T>G , CM000685.1:g.153170980T>G	GRCh37
NC_000023.9:g.152824174T>G	NCBI36
NG_008687.1:g.5553T>G
NG_009645.3:g.8698A>C
NG_013220.1:g.25735A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.26-6T>G (AVPR2) MANE Select	ENSP00000496396.1:n.26-6T>G
ENST00000434679.6:c.25+356T>G (AVPR2)	ENSP00000393397.1:n.25+356T>G
ENST00000642393.1:c.97+3544A>C
ENST00000646191.1:c.97+3544A>C
ENST00000646375.1:c.26-6T>G (AVPR2)	ENSP00000496396.1:n.26-6T>G
ENST00000337474.5:c.26-6T>G (AVPR2)	ENSP00000338072.5:n.26-6T>G
ENST00000358927.6:c.26-6T>G (AVPR2)	ENSP00000351805.2:n.26-6T>G
ENST00000370049.1:c.26-6T>G (AVPR2)	ENSP00000359066.1:n.26-6T>G
ENST00000430697.1:c.26-6T>G (AVPR2)	ENSP00000393513.1:n.26-6T>G
ENST00000434679.5:c.25+356T>G (AVPR2)	ENSP00000393397.1:n.25+356T>G
ENST00000464967.5:n.154+3544A>C (L1CAM)
NM_000054.4:c.26-6T>G (AVPR2)	NP_000045.1:n.26-6T>G
NM_001146151.1:c.26-6T>G (AVPR2)	NP_001139623.1:n.26-6T>G
NR_027419.1:n.559+356T>G (AVPR2)
XM_006724828.2:c.26-6T>G (AVPR2)	XP_006724891.1:n.26-6T>G
NM_000054.5:c.26-6T>G (AVPR2)	NP_000045.1:n.26-6T>G
NM_001146151.2:c.26-6T>G (AVPR2)	NP_001139623.1:n.26-6T>G
XM_006724828.3:c.26-6T>G (AVPR2)	XP_006724891.1:n.26-6T>G
NM_000054.6:c.26-6T>G (AVPR2)	NP_000045.1:n.26-6T>G
NM_001146151.3:c.26-6T>G (AVPR2)	NP_001139623.1:n.26-6T>G
NR_027419.2:n.465+356T>G (AVPR2)
NM_000054.7:c.26-6T>G (AVPR2) MANE Select	NP_000045.1:n.26-6T>G