Canonical Allele Identifier: CA10555159

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 368079
• ClinVar RCV Id: RCV000347498
• dbSNP Id: rs782425427
• ExAC: X:153172301 G / A
• gnomAD v2: X-153172301-G-A
• gnomAD v3: X-153906847-G-A
• gnomAD v4: X-153906847-G-A
• MyVariant Identifiers: chrX:g.153172301G>A (hg19) ; chrX:g.153906847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906847G>A , CM000685.2:g.153906847G>A	GRCh38
NC_000023.10:g.153172301G>A , CM000685.1:g.153172301G>A	GRCh37
NC_000023.9:g.152825495G>A	NCBI36
NG_008687.1:g.6874G>A
NG_009645.3:g.7377C>T
NG_013220.1:g.24414C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*119G>A (AVPR2) MANE Select	ENSP00000496396.1:n.*119G>A
ENST00000434679.6:c.*601G>A (AVPR2)	ENSP00000393397.1:n.*601G>A
ENST00000642393.1:c.97+2223C>T
ENST00000646191.1:c.97+2223C>T
ENST00000646375.1:c.*119G>A (AVPR2)	ENSP00000496396.1:n.*119G>A
ENST00000337474.5:c.*119G>A (AVPR2)	ENSP00000338072.5:n.*119G>A
ENST00000358927.6:c.*119G>A (AVPR2)	ENSP00000351805.2:n.*119G>A
ENST00000434679.5:c.*601G>A (AVPR2)	ENSP00000393397.1:n.*601G>A
ENST00000464967.5:n.154+2223C>T (L1CAM)
NM_000054.4:c.*119G>A (AVPR2)	NP_000045.1:n.*119G>A
NM_001146151.1:c.*411G>A (AVPR2)	NP_001139623.1:n.*411G>A
NR_027419.1:n.1282G>A (AVPR2)
XM_006724828.2:c.*119G>A (AVPR2)	XP_006724891.1:n.*119G>A
NM_000054.5:c.*119G>A (AVPR2)	NP_000045.1:n.*119G>A
NM_001146151.2:c.*411G>A (AVPR2)	NP_001139623.1:n.*411G>A
XM_006724828.3:c.*119G>A (AVPR2)	XP_006724891.1:n.*119G>A
NM_000054.6:c.*119G>A (AVPR2)	NP_000045.1:n.*119G>A
NM_001146151.3:c.*411G>A (AVPR2)	NP_001139623.1:n.*411G>A
NR_027419.2:n.1188G>A (AVPR2)
NM_000054.7:c.*119G>A (AVPR2) MANE Select	NP_000045.1:n.*119G>A