Canonical Allele Identifier: CA415111488

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153906632-C-G
• MyVariant Identifiers: chrX:g.153172086C>G (hg19) ; chrX:g.153906632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906632C>G , CM000685.2:g.153906632C>G	GRCh38
NC_000023.10:g.153172086C>G , CM000685.1:g.153172086C>G	GRCh37
NC_000023.9:g.152825280C>G	NCBI36
NG_008687.1:g.6659C>G
NG_009645.3:g.7592G>C
NG_013220.1:g.24629G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.1020C>G (AVPR2) MANE Select	ENSP00000496396.1:p.Leu340=
ENST00000434679.6:c.*386C>G (AVPR2)	ENSP00000393397.1:n.*386C>G
ENST00000642393.1:c.97+2438G>C
ENST00000646191.1:c.97+2438G>C
ENST00000646375.1:c.1020C>G (AVPR2)	ENSP00000496396.1:p.Leu340=
ENST00000337474.5:c.1020C>G (AVPR2)	ENSP00000338072.5:p.Leu340=
ENST00000358927.6:c.1020C>G (AVPR2)	ENSP00000351805.2:p.Leu340=
ENST00000370049.1:c.*196C>G (AVPR2)	ENSP00000359066.1:n.*196C>G
ENST00000430697.1:c.932C>G (AVPR2)	ENSP00000393513.1:p.Ser311Cys
ENST00000434679.5:c.*386C>G (AVPR2)	ENSP00000393397.1:n.*386C>G
ENST00000464967.5:n.154+2438G>C (L1CAM)
NM_000054.4:c.1020C>G (AVPR2)	NP_000045.1:p.Leu340=
NM_001146151.1:c.*196C>G (AVPR2)	NP_001139623.1:n.*196C>G
NR_027419.1:n.1067C>G (AVPR2)
XM_006724828.2:c.1020C>G (AVPR2)	XP_006724891.1:p.Leu340=
NM_000054.5:c.1020C>G (AVPR2)	NP_000045.1:p.Leu340=
NM_001146151.2:c.*196C>G (AVPR2)	NP_001139623.1:n.*196C>G
XM_006724828.3:c.1020C>G (AVPR2)	XP_006724891.1:p.Leu340=
NM_000054.6:c.1020C>G (AVPR2)	NP_000045.1:p.Leu340=
NM_001146151.3:c.*196C>G (AVPR2)	NP_001139623.1:n.*196C>G
NR_027419.2:n.973C>G (AVPR2)
NM_000054.7:c.1020C>G (AVPR2) MANE Select	NP_000045.1:p.Leu340=