Canonical Allele Identifier: CA415109453

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 804120
• ClinVar RCV Id: RCV000990993
• dbSNP Id: rs1603282342
• MyVariant Identifiers: chrX:g.153171776G>A (hg19) ; chrX:g.153906322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906322G>A , CM000685.2:g.153906322G>A	GRCh38
NC_000023.10:g.153171776G>A , CM000685.1:g.153171776G>A	GRCh37
NC_000023.9:g.152824970G>A	NCBI36
NG_008687.1:g.6349G>A
NG_009645.3:g.7902C>T
NG_013220.1:g.24939C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.816G>A (AVPR2) MANE Select	ENSP00000496396.1:p.Met272Ile
ENST00000434679.6:c.*182G>A (AVPR2)	ENSP00000393397.1:n.*182G>A
ENST00000642393.1:c.97+2748C>T
ENST00000646191.1:c.97+2748C>T
ENST00000646375.1:c.816G>A (AVPR2)	ENSP00000496396.1:p.Met272Ile
ENST00000337474.5:c.816G>A (AVPR2)	ENSP00000338072.5:p.Met272Ile
ENST00000358927.6:c.816G>A (AVPR2)	ENSP00000351805.2:p.Met272Ile
ENST00000370049.1:c.816G>A (AVPR2)	ENSP00000359066.1:p.Met272Ile
ENST00000430697.1:c.816G>A (AVPR2)	ENSP00000393513.1:p.Met272Ile
ENST00000434679.5:c.*182G>A (AVPR2)	ENSP00000393397.1:n.*182G>A
ENST00000464967.5:n.154+2748C>T (L1CAM)
NM_000054.4:c.816G>A (AVPR2)	NP_000045.1:p.Met272Ile
NM_001146151.1:c.816G>A (AVPR2)	NP_001139623.1:p.Met272Ile
NR_027419.1:n.863G>A (AVPR2)
XM_006724828.2:c.816G>A (AVPR2)	XP_006724891.1:p.Met272Ile
NM_000054.5:c.816G>A (AVPR2)	NP_000045.1:p.Met272Ile
NM_001146151.2:c.816G>A (AVPR2)	NP_001139623.1:p.Met272Ile
XM_006724828.3:c.816G>A (AVPR2)	XP_006724891.1:p.Met272Ile
NM_000054.6:c.816G>A (AVPR2)	NP_000045.1:p.Met272Ile
NM_001146151.3:c.816G>A (AVPR2)	NP_001139623.1:p.Met272Ile
NR_027419.2:n.769G>A (AVPR2)
NM_000054.7:c.816G>A (AVPR2) MANE Select	NP_000045.1:p.Met272Ile