Canonical Allele Identifier: CA519665980

Gene: AVPR2 L1CAM

Linked Data

• MyVariant Identifiers: chrX:g.153171440G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905986G>T , CM000685.2:g.153905986G>T	GRCh38
NC_000023.10:g.153171440G>T , CM000685.1:g.153171440G>T	GRCh37
NC_000023.9:g.152824634G>T	NCBI36
NG_008687.1:g.6013G>T
NG_009645.3:g.8238C>A
NG_013220.1:g.25275C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.480G>T (AVPR2) MANE Select	ENSP00000496396.1:p.Val160=
ENST00000434679.6:c.26-33G>T (AVPR2)	ENSP00000393397.1:n.26-33G>T
ENST00000642393.1:c.97+3084C>A
ENST00000646191.1:c.97+3084C>A
ENST00000646375.1:c.480G>T (AVPR2)	ENSP00000496396.1:p.Val160=
ENST00000337474.5:c.480G>T (AVPR2)	ENSP00000338072.5:p.Val160=
ENST00000358927.6:c.480G>T (AVPR2)	ENSP00000351805.2:p.Val160=
ENST00000370049.1:c.480G>T (AVPR2)	ENSP00000359066.1:p.Val160=
ENST00000430697.1:c.480G>T (AVPR2)	ENSP00000393513.1:p.Val160=
ENST00000434679.5:c.26-33G>T (AVPR2)	ENSP00000393397.1:n.26-33G>T
ENST00000464967.5:n.154+3084C>A (L1CAM)
NM_000054.4:c.480G>T (AVPR2)	NP_000045.1:p.Val160=
NM_001146151.1:c.480G>T (AVPR2)	NP_001139623.1:p.Val160=
NR_027419.1:n.560-33G>T (AVPR2)
XM_006724828.2:c.480G>T (AVPR2)	XP_006724891.1:p.Val160=
NM_000054.5:c.480G>T (AVPR2)	NP_000045.1:p.Val160=
NM_001146151.2:c.480G>T (AVPR2)	NP_001139623.1:p.Val160=
XM_006724828.3:c.480G>T (AVPR2)	XP_006724891.1:p.Val160=
NM_000054.6:c.480G>T (AVPR2)	NP_000045.1:p.Val160=
NM_001146151.3:c.480G>T (AVPR2)	NP_001139623.1:p.Val160=
NR_027419.2:n.466-33G>T (AVPR2)
NM_000054.7:c.480G>T (AVPR2) MANE Select	NP_000045.1:p.Val160=