Canonical Allele Identifier: CA337263518

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905699C>T , CM000685.2:g.153905699C>T	GRCh38
NC_000023.10:g.153171153C>T , CM000685.1:g.153171153C>T	GRCh37
NC_000023.9:g.152824347C>T	NCBI36
NG_008687.1:g.5726C>T
NG_009645.3:g.8525G>A
NG_013220.1:g.25562G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000054.7:c.193C>T (AVPR2) MANE Select	NP_000045.1:p.Arg65Trp
ENST00000646375.2:c.193C>T (AVPR2) MANE Select	ENSP00000496396.1:p.Arg65Trp
NM_000054.4:c.193C>T (AVPR2)	NP_000045.1:p.Arg65Trp
NM_000054.5:c.193C>T (AVPR2)	NP_000045.1:p.Arg65Trp
NM_000054.6:c.193C>T (AVPR2)	NP_000045.1:p.Arg65Trp
NM_001146151.1:c.193C>T (AVPR2)	NP_001139623.1:p.Arg65Trp
NM_001146151.2:c.193C>T (AVPR2)	NP_001139623.1:p.Arg65Trp
NM_001146151.3:c.193C>T (AVPR2)	NP_001139623.1:p.Arg65Trp
NR_027419.1:n.560-320C>T (AVPR2)
NR_027419.2:n.466-320C>T (AVPR2)
ENST00000337474.5:c.193C>T (AVPR2)	ENSP00000338072.5:p.Arg65Trp
ENST00000358927.6:c.193C>T (AVPR2)	ENSP00000351805.2:p.Arg65Trp
ENST00000370049.1:c.193C>T (AVPR2)	ENSP00000359066.1:p.Arg65Trp
ENST00000430697.1:c.193C>T (AVPR2)	ENSP00000393513.1:p.Arg65Trp
ENST00000434679.5:c.26-320C>T (AVPR2)	ENSP00000393397.1:n.26-320C>T
ENST00000434679.6:c.26-320C>T (AVPR2)	ENSP00000393397.1:n.26-320C>T
ENST00000464967.5:n.154+3371G>A (L1CAM)
ENST00000642393.1:c.97+3371G>A
ENST00000646191.1:c.97+3371G>A
ENST00000646375.1:c.193C>T (AVPR2)	ENSP00000496396.1:p.Arg65Trp
XM_006724828.2:c.193C>T (AVPR2)	XP_006724891.1:p.Arg65Trp
XM_006724828.3:c.193C>T (AVPR2)	XP_006724891.1:p.Arg65Trp