Canonical Allele Identifier: CA415111691

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs2064970023
• gnomAD v4: X-153906654-C-G
• MyVariant Identifiers: chrX:g.153172108C>G (hg19) ; chrX:g.153906654C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906654C>G , CM000685.2:g.153906654C>G	GRCh38
NC_000023.10:g.153172108C>G , CM000685.1:g.153172108C>G	GRCh37
NC_000023.9:g.152825302C>G	NCBI36
NG_008687.1:g.6681C>G
NG_009645.3:g.7570G>C
NG_013220.1:g.24607G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.1042C>G (AVPR2) MANE Select	ENSP00000496396.1:p.Pro348Ala
ENST00000434679.6:c.*408C>G (AVPR2)	ENSP00000393397.1:n.*408C>G
ENST00000642393.1:c.97+2416G>C
ENST00000646191.1:c.97+2416G>C
ENST00000646375.1:c.1042C>G (AVPR2)	ENSP00000496396.1:p.Pro348Ala
ENST00000337474.5:c.1042C>G (AVPR2)	ENSP00000338072.5:p.Pro348Ala
ENST00000358927.6:c.1042C>G (AVPR2)	ENSP00000351805.2:p.Pro348Ala
ENST00000370049.1:c.*218C>G (AVPR2)	ENSP00000359066.1:n.*218C>G
ENST00000430697.1:c.954C>G (AVPR2)	ENSP00000393513.1:p.Pro318=
ENST00000434679.5:c.*408C>G (AVPR2)	ENSP00000393397.1:n.*408C>G
ENST00000464967.5:n.154+2416G>C (L1CAM)
NM_000054.4:c.1042C>G (AVPR2)	NP_000045.1:p.Pro348Ala
NM_001146151.1:c.*218C>G (AVPR2)	NP_001139623.1:n.*218C>G
NR_027419.1:n.1089C>G (AVPR2)
XM_006724828.2:c.1042C>G (AVPR2)	XP_006724891.1:p.Pro348Ala
NM_000054.5:c.1042C>G (AVPR2)	NP_000045.1:p.Pro348Ala
NM_001146151.2:c.*218C>G (AVPR2)	NP_001139623.1:n.*218C>G
XM_006724828.3:c.1042C>G (AVPR2)	XP_006724891.1:p.Pro348Ala
NM_000054.6:c.1042C>G (AVPR2)	NP_000045.1:p.Pro348Ala
NM_001146151.3:c.*218C>G (AVPR2)	NP_001139623.1:n.*218C>G
NR_027419.2:n.995C>G (AVPR2)
NM_000054.7:c.1042C>G (AVPR2) MANE Select	NP_000045.1:p.Pro348Ala