Canonical Allele Identifier: CA415112877

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs2064972008
• gnomAD v4: X-153906815-C-T
• MyVariant Identifiers: chrX:g.153172269C>T (hg19) ; chrX:g.153906815C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906815C>T , CM000685.2:g.153906815C>T	GRCh38
NC_000023.10:g.153172269C>T , CM000685.1:g.153172269C>T	GRCh37
NC_000023.9:g.152825463C>T	NCBI36
NG_008687.1:g.6842C>T
NG_009645.3:g.7409G>A
NG_013220.1:g.24446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*87C>T (AVPR2) MANE Select	ENSP00000496396.1:n.*87C>T
ENST00000434679.6:c.*569C>T (AVPR2)	ENSP00000393397.1:n.*569C>T
ENST00000642393.1:c.97+2255G>A
ENST00000646191.1:c.97+2255G>A
ENST00000646375.1:c.*87C>T (AVPR2)	ENSP00000496396.1:n.*87C>T
ENST00000337474.5:c.*87C>T (AVPR2)	ENSP00000338072.5:n.*87C>T
ENST00000358927.6:c.*87C>T (AVPR2)	ENSP00000351805.2:n.*87C>T
ENST00000430697.1:c.1115C>T (AVPR2)	ENSP00000393513.1:p.Thr372Ile
ENST00000434679.5:c.*569C>T (AVPR2)	ENSP00000393397.1:n.*569C>T
ENST00000464967.5:n.154+2255G>A (L1CAM)
NM_000054.4:c.*87C>T (AVPR2)	NP_000045.1:n.*87C>T
NM_001146151.1:c.*379C>T (AVPR2)	NP_001139623.1:n.*379C>T
NR_027419.1:n.1250C>T (AVPR2)
XM_006724828.2:c.*87C>T (AVPR2)	XP_006724891.1:n.*87C>T
NM_000054.5:c.*87C>T (AVPR2)	NP_000045.1:n.*87C>T
NM_001146151.2:c.*379C>T (AVPR2)	NP_001139623.1:n.*379C>T
XM_006724828.3:c.*87C>T (AVPR2)	XP_006724891.1:n.*87C>T
NM_000054.6:c.*87C>T (AVPR2)	NP_000045.1:n.*87C>T
NM_001146151.3:c.*379C>T (AVPR2)	NP_001139623.1:n.*379C>T
NR_027419.2:n.1156C>T (AVPR2)
NM_000054.7:c.*87C>T (AVPR2) MANE Select	NP_000045.1:n.*87C>T