Canonical Allele Identifier: CA2695073705

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153906854-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906854G>T , CM000685.2:g.153906854G>T	GRCh38
NC_000023.10:g.153172308G>T , CM000685.1:g.153172308G>T	GRCh37
NC_000023.9:g.152825502G>T	NCBI36
NG_008687.1:g.6881G>T
NG_009645.3:g.7370C>A
NG_013220.1:g.24407C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*126G>T (AVPR2) MANE Select	ENSP00000496396.1:n.*126G>T
ENST00000434679.6:c.*608G>T (AVPR2)	ENSP00000393397.1:n.*608G>T
ENST00000642393.1:c.97+2216C>A
ENST00000646191.1:c.97+2216C>A
ENST00000646375.1:c.*126G>T (AVPR2)	ENSP00000496396.1:n.*126G>T
ENST00000337474.5:c.*126G>T (AVPR2)	ENSP00000338072.5:n.*126G>T
ENST00000358927.6:c.*126G>T (AVPR2)	ENSP00000351805.2:n.*126G>T
ENST00000434679.5:c.*608G>T (AVPR2)	ENSP00000393397.1:n.*608G>T
ENST00000464967.5:n.154+2216C>A (L1CAM)
NM_000054.4:c.*126G>T (AVPR2)	NP_000045.1:n.*126G>T
NM_001146151.1:c.*418G>T (AVPR2)	NP_001139623.1:n.*418G>T
NR_027419.1:n.1289G>T (AVPR2)
XM_006724828.2:c.*126G>T (AVPR2)	XP_006724891.1:n.*126G>T
NM_000054.5:c.*126G>T (AVPR2)	NP_000045.1:n.*126G>T
NM_001146151.2:c.*418G>T (AVPR2)	NP_001139623.1:n.*418G>T
XM_006724828.3:c.*126G>T (AVPR2)	XP_006724891.1:n.*126G>T
NM_000054.6:c.*126G>T (AVPR2)	NP_000045.1:n.*126G>T
NM_001146151.3:c.*418G>T (AVPR2)	NP_001139623.1:n.*418G>T
NR_027419.2:n.1195G>T (AVPR2)
NM_000054.7:c.*126G>T (AVPR2) MANE Select	NP_000045.1:n.*126G>T