Canonical Allele Identifier: CA10555127

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs142185527
• ExAC: X:153172120 G / C
• gnomAD v2: X-153172120-G-C
• gnomAD v3: X-153906666-G-C
• gnomAD v4: X-153906666-G-C
• MyVariant Identifiers: chrX:g.153172120G>C (hg19) ; chrX:g.153906666G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906666G>C , CM000685.2:g.153906666G>C	GRCh38
NC_000023.10:g.153172120G>C , CM000685.1:g.153172120G>C	GRCh37
NC_000023.9:g.152825314G>C	NCBI36
NG_008687.1:g.6693G>C
NG_009645.3:g.7558C>G
NG_013220.1:g.24595C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.1054G>C (AVPR2) MANE Select	ENSP00000496396.1:p.Gly352Arg
ENST00000434679.6:c.*420G>C (AVPR2)	ENSP00000393397.1:n.*420G>C
ENST00000642393.1:c.97+2404C>G
ENST00000646191.1:c.97+2404C>G
ENST00000646375.1:c.1054G>C (AVPR2)	ENSP00000496396.1:p.Gly352Arg
ENST00000337474.5:c.1054G>C (AVPR2)	ENSP00000338072.5:p.Gly352Arg
ENST00000358927.6:c.1054G>C (AVPR2)	ENSP00000351805.2:p.Gly352Arg
ENST00000370049.1:c.*230G>C (AVPR2)	ENSP00000359066.1:n.*230G>C
ENST00000430697.1:c.966G>C (AVPR2)	ENSP00000393513.1:p.Trp322Cys
ENST00000434679.5:c.*420G>C (AVPR2)	ENSP00000393397.1:n.*420G>C
ENST00000464967.5:n.154+2404C>G (L1CAM)
NM_000054.4:c.1054G>C (AVPR2)	NP_000045.1:p.Gly352Arg
NM_001146151.1:c.*230G>C (AVPR2)	NP_001139623.1:n.*230G>C
NR_027419.1:n.1101G>C (AVPR2)
XM_006724828.2:c.1054G>C (AVPR2)	XP_006724891.1:p.Gly352Arg
NM_000054.5:c.1054G>C (AVPR2)	NP_000045.1:p.Gly352Arg
NM_001146151.2:c.*230G>C (AVPR2)	NP_001139623.1:n.*230G>C
XM_006724828.3:c.1054G>C (AVPR2)	XP_006724891.1:p.Gly352Arg
NM_000054.6:c.1054G>C (AVPR2)	NP_000045.1:p.Gly352Arg
NM_001146151.3:c.*230G>C (AVPR2)	NP_001139623.1:n.*230G>C
NR_027419.2:n.1007G>C (AVPR2)
NM_000054.7:c.1054G>C (AVPR2) MANE Select	NP_000045.1:p.Gly352Arg