Canonical Allele Identifier: CA2466520847

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906630C= , CM000685.2:g.153906630C=	GRCh38
NC_000023.10:g.153172084C= , CM000685.1:g.153172084C=	GRCh37
NC_000023.9:g.152825278C=	NCBI36
NG_008687.1:g.6657C=
NG_009645.3:g.7594G=
NG_013220.1:g.24631G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.1018C= (AVPR2) MANE Select	ENSP00000496396.1:p.Leu340=
ENST00000434679.6:c.*384C= (AVPR2)	ENSP00000393397.1:n.*384C=
ENST00000642393.1:c.97+2440G=
ENST00000646191.1:c.97+2440G=
ENST00000646375.1:c.1018C= (AVPR2)	ENSP00000496396.1:p.Leu340=
ENST00000337474.5:c.1018C= (AVPR2)	ENSP00000338072.5:p.Leu340=
ENST00000358927.6:c.1018C= (AVPR2)	ENSP00000351805.2:p.Leu340=
ENST00000370049.1:c.*194C= (AVPR2)	ENSP00000359066.1:n.*194C=
ENST00000430697.1:c.930C= (AVPR2)	ENSP00000393513.1:p.Cys310=
ENST00000434679.5:c.*384C= (AVPR2)	ENSP00000393397.1:n.*384C=
ENST00000464967.5:n.154+2440G= (L1CAM)
NM_000054.4:c.1018C= (AVPR2)	NP_000045.1:p.Leu340=
NM_001146151.1:c.*194C= (AVPR2)	NP_001139623.1:n.*194C=
NR_027419.1:n.1065C= (AVPR2)
XM_006724828.2:c.1018C= (AVPR2)	XP_006724891.1:p.Leu340=
NM_000054.5:c.1018C= (AVPR2)	NP_000045.1:p.Leu340=
NM_001146151.2:c.*194C= (AVPR2)	NP_001139623.1:n.*194C=
XM_006724828.3:c.1018C= (AVPR2)	XP_006724891.1:p.Leu340=
NM_000054.6:c.1018C= (AVPR2)	NP_000045.1:p.Leu340=
NM_001146151.3:c.*194C= (AVPR2)	NP_001139623.1:n.*194C=
NR_027419.2:n.971C= (AVPR2)
NM_000054.7:c.1018C= (AVPR2) MANE Select	NP_000045.1:p.Leu340=