Canonical Allele Identifier: CA2466520863

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs2064970140

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906667del , CM000685.2:g.153906667del	GRCh38
NC_000023.10:g.153172121del , CM000685.1:g.153172121del	GRCh37
NC_000023.9:g.152825315del	NCBI36
NG_008687.1:g.6694del
NG_009645.3:g.7559del
NG_013220.1:g.24596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.1055del (AVPR2) MANE Select	ENSP00000496396.1:p.Gly352ValfsTer?
ENST00000434679.6:c.*421del (AVPR2)	ENSP00000393397.1:n.*421del
ENST00000642393.1:c.97+2405del
ENST00000646191.1:c.97+2405del
ENST00000646375.1:c.1055del (AVPR2)	ENSP00000496396.1:p.Gly352ValfsTer?
ENST00000337474.5:c.1055del (AVPR2)	ENSP00000338072.5:p.Gly352ValfsTer?
ENST00000358927.6:c.1055del (AVPR2)	ENSP00000351805.2:p.Gly352ValfsTer?
ENST00000370049.1:c.*231del (AVPR2)	ENSP00000359066.1:n.*231del
ENST00000430697.1:c.967del (AVPR2)	ENSP00000393513.1:p.Val323SerfsTer4
ENST00000434679.5:c.*421del (AVPR2)	ENSP00000393397.1:n.*421del
ENST00000464967.5:n.154+2405del (L1CAM)
NM_000054.4:c.1055del (AVPR2)	NP_000045.1:p.Gly352ValfsTer?
NM_001146151.1:c.*231del (AVPR2)	NP_001139623.1:n.*231del
NR_027419.1:n.1102del (AVPR2)
XM_006724828.2:c.1055del (AVPR2)	XP_006724891.1:p.Gly352ValfsTer?
NM_000054.5:c.1055del (AVPR2)	NP_000045.1:p.Gly352ValfsTer?
NM_001146151.2:c.*231del (AVPR2)	NP_001139623.1:n.*231del
XM_006724828.3:c.1055del (AVPR2)	XP_006724891.1:p.Gly352ValfsTer?
NM_000054.6:c.1055del (AVPR2)	NP_000045.1:p.Gly352ValfsTer?
NM_001146151.3:c.*231del (AVPR2)	NP_001139623.1:n.*231del
NR_027419.2:n.1008del (AVPR2)
NM_000054.7:c.1055del (AVPR2) MANE Select	NP_000045.1:p.Gly352ValfsTer?