Canonical Allele Identifier: CA10555091

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs782632602
• ExAC: X:153171858 G / C
• gnomAD v2: X-153171858-G-C
• gnomAD v4: X-153906404-G-C
• MyVariant Identifiers: chrX:g.153171858G>C (hg19) ; chrX:g.153906404G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906404G>C , CM000685.2:g.153906404G>C	GRCh38
NC_000023.10:g.153171858G>C , CM000685.1:g.153171858G>C	GRCh37
NC_000023.9:g.152825052G>C	NCBI36
NG_008687.1:g.6431G>C
NG_009645.3:g.7820C>G
NG_013220.1:g.24857C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.898G>C (AVPR2) MANE Select	ENSP00000496396.1:p.Ala300Pro
ENST00000434679.6:c.*264G>C (AVPR2)	ENSP00000393397.1:n.*264G>C
ENST00000642393.1:c.97+2666C>G
ENST00000646191.1:c.97+2666C>G
ENST00000646375.1:c.898G>C (AVPR2)	ENSP00000496396.1:p.Ala300Pro
ENST00000337474.5:c.898G>C (AVPR2)	ENSP00000338072.5:p.Ala300Pro
ENST00000358927.6:c.898G>C (AVPR2)	ENSP00000351805.2:p.Ala300Pro
ENST00000370049.1:c.898G>C (AVPR2)	ENSP00000359066.1:p.Ala300Pro
ENST00000430697.1:c.822+76G>C (AVPR2)	ENSP00000393513.1:n.822+76G>C
ENST00000434679.5:c.*264G>C (AVPR2)	ENSP00000393397.1:n.*264G>C
ENST00000464967.5:n.154+2666C>G (L1CAM)
NM_000054.4:c.898G>C (AVPR2)	NP_000045.1:p.Ala300Pro
NM_001146151.1:c.898G>C (AVPR2)	NP_001139623.1:p.Ala300Pro
NR_027419.1:n.945G>C (AVPR2)
XM_006724828.2:c.898G>C (AVPR2)	XP_006724891.1:p.Ala300Pro
NM_000054.5:c.898G>C (AVPR2)	NP_000045.1:p.Ala300Pro
NM_001146151.2:c.898G>C (AVPR2)	NP_001139623.1:p.Ala300Pro
XM_006724828.3:c.898G>C (AVPR2)	XP_006724891.1:p.Ala300Pro
NM_000054.6:c.898G>C (AVPR2)	NP_000045.1:p.Ala300Pro
NM_001146151.3:c.898G>C (AVPR2)	NP_001139623.1:p.Ala300Pro
NR_027419.2:n.851G>C (AVPR2)
NM_000054.7:c.898G>C (AVPR2) MANE Select	NP_000045.1:p.Ala300Pro