Canonical Allele Identifier: CA10555090

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs782385980
• ExAC: X:153171857 G / A
• gnomAD v2: X-153171857-G-A
• gnomAD v4: X-153906403-G-A
• MyVariant Identifiers: chrX:g.153171857G>A (hg19) ; chrX:g.153906403G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906403G>A , CM000685.2:g.153906403G>A	GRCh38
NC_000023.10:g.153171857G>A , CM000685.1:g.153171857G>A	GRCh37
NC_000023.9:g.152825051G>A	NCBI36
NG_008687.1:g.6430G>A
NG_009645.3:g.7821C>T
NG_013220.1:g.24858C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.897G>A (AVPR2) MANE Select	ENSP00000496396.1:p.Glu299=
ENST00000434679.6:c.*263G>A (AVPR2)	ENSP00000393397.1:n.*263G>A
ENST00000642393.1:c.97+2667C>T
ENST00000646191.1:c.97+2667C>T
ENST00000646375.1:c.897G>A (AVPR2)	ENSP00000496396.1:p.Glu299=
ENST00000337474.5:c.897G>A (AVPR2)	ENSP00000338072.5:p.Glu299=
ENST00000358927.6:c.897G>A (AVPR2)	ENSP00000351805.2:p.Glu299=
ENST00000370049.1:c.897G>A (AVPR2)	ENSP00000359066.1:p.Glu299=
ENST00000430697.1:c.822+75G>A (AVPR2)	ENSP00000393513.1:n.822+75G>A
ENST00000434679.5:c.*263G>A (AVPR2)	ENSP00000393397.1:n.*263G>A
ENST00000464967.5:n.154+2667C>T (L1CAM)
NM_000054.4:c.897G>A (AVPR2)	NP_000045.1:p.Glu299=
NM_001146151.1:c.897G>A (AVPR2)	NP_001139623.1:p.Glu299=
NR_027419.1:n.944G>A (AVPR2)
XM_006724828.2:c.897G>A (AVPR2)	XP_006724891.1:p.Glu299=
NM_000054.5:c.897G>A (AVPR2)	NP_000045.1:p.Glu299=
NM_001146151.2:c.897G>A (AVPR2)	NP_001139623.1:p.Glu299=
XM_006724828.3:c.897G>A (AVPR2)	XP_006724891.1:p.Glu299=
NM_000054.6:c.897G>A (AVPR2)	NP_000045.1:p.Glu299=
NM_001146151.3:c.897G>A (AVPR2)	NP_001139623.1:p.Glu299=
NR_027419.2:n.850G>A (AVPR2)
NM_000054.7:c.897G>A (AVPR2) MANE Select	NP_000045.1:p.Glu299=