Canonical Allele Identifier: CA415112792

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153906805-G-T
• MyVariant Identifiers: chrX:g.153172259G>T (hg19) ; chrX:g.153906805G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906805G>T , CM000685.2:g.153906805G>T	GRCh38
NC_000023.10:g.153172259G>T , CM000685.1:g.153172259G>T	GRCh37
NC_000023.9:g.152825453G>T	NCBI36
NG_008687.1:g.6832G>T
NG_009645.3:g.7419C>A
NG_013220.1:g.24456C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*77G>T (AVPR2) MANE Select	ENSP00000496396.1:n.*77G>T
ENST00000434679.6:c.*559G>T (AVPR2)	ENSP00000393397.1:n.*559G>T
ENST00000642393.1:c.97+2265C>A
ENST00000646191.1:c.97+2265C>A
ENST00000646375.1:c.*77G>T (AVPR2)	ENSP00000496396.1:n.*77G>T
ENST00000337474.5:c.*77G>T (AVPR2)	ENSP00000338072.5:n.*77G>T
ENST00000358927.6:c.*77G>T (AVPR2)	ENSP00000351805.2:n.*77G>T
ENST00000430697.1:c.1105G>T (AVPR2)	ENSP00000393513.1:p.Gly369Trp
ENST00000434679.5:c.*559G>T (AVPR2)	ENSP00000393397.1:n.*559G>T
ENST00000464967.5:n.154+2265C>A (L1CAM)
NM_000054.4:c.*77G>T (AVPR2)	NP_000045.1:n.*77G>T
NM_001146151.1:c.*369G>T (AVPR2)	NP_001139623.1:n.*369G>T
NR_027419.1:n.1240G>T (AVPR2)
XM_006724828.2:c.*77G>T (AVPR2)	XP_006724891.1:n.*77G>T
NM_000054.5:c.*77G>T (AVPR2)	NP_000045.1:n.*77G>T
NM_001146151.2:c.*369G>T (AVPR2)	NP_001139623.1:n.*369G>T
XM_006724828.3:c.*77G>T (AVPR2)	XP_006724891.1:n.*77G>T
NM_000054.6:c.*77G>T (AVPR2)	NP_000045.1:n.*77G>T
NM_001146151.3:c.*369G>T (AVPR2)	NP_001139623.1:n.*369G>T
NR_027419.2:n.1146G>T (AVPR2)
NM_000054.7:c.*77G>T (AVPR2) MANE Select	NP_000045.1:n.*77G>T