Canonical Allele Identifier: CA10555133

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 2547230
• ClinVar RCV Id: RCV003777056 ; RCV003277192
• dbSNP Id: rs782201621
• ExAC: X:153172136 C / T
• gnomAD v2: X-153172136-C-T
• gnomAD v3: X-153906682-C-T
• gnomAD v4: X-153906682-C-T
• MyVariant Identifiers: chrX:g.153172136C>T (hg19) ; chrX:g.153906682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906682C>T , CM000685.2:g.153906682C>T	GRCh38
NC_000023.10:g.153172136C>T , CM000685.1:g.153172136C>T	GRCh37
NC_000023.9:g.152825330C>T	NCBI36
NG_008687.1:g.6709C>T
NG_009645.3:g.7542G>A
NG_013220.1:g.24579G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.1070C>T (AVPR2) MANE Select	ENSP00000496396.1:p.Ser357Phe
ENST00000434679.6:c.*436C>T (AVPR2)	ENSP00000393397.1:n.*436C>T
ENST00000642393.1:c.97+2388G>A
ENST00000646191.1:c.97+2388G>A
ENST00000646375.1:c.1070C>T (AVPR2)	ENSP00000496396.1:p.Ser357Phe
ENST00000337474.5:c.1070C>T (AVPR2)	ENSP00000338072.5:p.Ser357Phe
ENST00000358927.6:c.1070C>T (AVPR2)	ENSP00000351805.2:p.Ser357Phe
ENST00000370049.1:c.*246C>T (AVPR2)	ENSP00000359066.1:n.*246C>T
ENST00000430697.1:c.982C>T (AVPR2)	ENSP00000393513.1:p.Pro328Ser
ENST00000434679.5:c.*436C>T (AVPR2)	ENSP00000393397.1:n.*436C>T
ENST00000464967.5:n.154+2388G>A (L1CAM)
NM_000054.4:c.1070C>T (AVPR2)	NP_000045.1:p.Ser357Phe
NM_001146151.1:c.*246C>T (AVPR2)	NP_001139623.1:n.*246C>T
NR_027419.1:n.1117C>T (AVPR2)
XM_006724828.2:c.1070C>T (AVPR2)	XP_006724891.1:p.Ser357Phe
NM_000054.5:c.1070C>T (AVPR2)	NP_000045.1:p.Ser357Phe
NM_001146151.2:c.*246C>T (AVPR2)	NP_001139623.1:n.*246C>T
XM_006724828.3:c.1070C>T (AVPR2)	XP_006724891.1:p.Ser357Phe
NM_000054.6:c.1070C>T (AVPR2)	NP_000045.1:p.Ser357Phe
NM_001146151.3:c.*246C>T (AVPR2)	NP_001139623.1:n.*246C>T
NR_027419.2:n.1023C>T (AVPR2)
NM_000054.7:c.1070C>T (AVPR2) MANE Select	NP_000045.1:p.Ser357Phe