Canonical Allele Identifier: CA415108270

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 1386192
• ClinVar RCV Id: RCV001881349
• dbSNP Id: rs2148514753
• MyVariant Identifiers: chrX:g.153171634A>C (hg19) ; chrX:g.153906180A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906180A>C , CM000685.2:g.153906180A>C	GRCh38
NC_000023.10:g.153171634A>C , CM000685.1:g.153171634A>C	GRCh37
NC_000023.9:g.152824828A>C	NCBI36
NG_008687.1:g.6207A>C
NG_009645.3:g.8044T>G
NG_013220.1:g.25081T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000646375.2:c.674A>C (AVPR2) MANE Select	ENSP00000496396.1:p.Gln225Pro
ENST00000434679.6:c.*40A>C (AVPR2)	ENSP00000393397.1:n.*40A>C
ENST00000642393.1:c.97+2890T>G
ENST00000646191.1:c.97+2890T>G
ENST00000646375.1:c.674A>C (AVPR2)	ENSP00000496396.1:p.Gln225Pro
ENST00000337474.5:c.674A>C (AVPR2)	ENSP00000338072.5:p.Gln225Pro
ENST00000358927.6:c.674A>C (AVPR2)	ENSP00000351805.2:p.Gln225Pro
ENST00000370049.1:c.674A>C (AVPR2)	ENSP00000359066.1:p.Gln225Pro
ENST00000430697.1:c.674A>C (AVPR2)	ENSP00000393513.1:p.Gln225Pro
ENST00000434679.5:c.*40A>C (AVPR2)	ENSP00000393397.1:n.*40A>C
ENST00000464967.5:n.154+2890T>G (L1CAM)
NM_000054.4:c.674A>C (AVPR2)	NP_000045.1:p.Gln225Pro
NM_001146151.1:c.674A>C (AVPR2)	NP_001139623.1:p.Gln225Pro
NR_027419.1:n.721A>C (AVPR2)
XM_006724828.2:c.674A>C (AVPR2)	XP_006724891.1:p.Gln225Pro
NM_000054.5:c.674A>C (AVPR2)	NP_000045.1:p.Gln225Pro
NM_001146151.2:c.674A>C (AVPR2)	NP_001139623.1:p.Gln225Pro
XM_006724828.3:c.674A>C (AVPR2)	XP_006724891.1:p.Gln225Pro
NM_000054.6:c.674A>C (AVPR2)	NP_000045.1:p.Gln225Pro
NM_001146151.3:c.674A>C (AVPR2)	NP_001139623.1:p.Gln225Pro
NR_027419.2:n.627A>C (AVPR2)
NM_000054.7:c.674A>C (AVPR2) MANE Select	NP_000045.1:p.Gln225Pro