Canonical Allele Identifier: CA260169

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 35745
• ClinVar RCV Id: RCV000029396 ; RCV001288809
• dbSNP Id: rs193922119
• MyVariant Identifiers: chrX:g.153171730del (hg19) ; chrX:g.153906276del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906276del , CM000685.2:g.153906276del	GRCh38
NC_000023.10:g.153171730del , CM000685.1:g.153171730del	GRCh37
NC_000023.9:g.152824924del	NCBI36
NG_008687.1:g.6303del
NG_009645.3:g.7949del
NG_013220.1:g.24986del

Transcript Alleles

HGVS	Amino-acid change
ENST00000646375.2:c.770del (AVPR2) MANE Select	ENSP00000496396.1:p.Gly257ValfsTer14
ENST00000434679.6:c.*136del (AVPR2)	ENSP00000393397.1:n.*136del
ENST00000642393.1:c.97+2795del
ENST00000646191.1:c.97+2795del
ENST00000646375.1:c.770del (AVPR2)	ENSP00000496396.1:p.Gly257ValfsTer14
ENST00000337474.5:c.770del (AVPR2)	ENSP00000338072.5:p.Gly257ValfsTer14
ENST00000358927.6:c.770del (AVPR2)	ENSP00000351805.2:p.Gly257ValfsTer14
ENST00000370049.1:c.770del (AVPR2)	ENSP00000359066.1:p.Gly257ValfsTer14
ENST00000430697.1:c.770del (AVPR2)	ENSP00000393513.1:p.Gly257ValfsTer14
ENST00000434679.5:c.*136del (AVPR2)	ENSP00000393397.1:n.*136del
ENST00000464967.5:n.154+2795del (L1CAM)
NM_000054.4:c.770del (AVPR2)	NP_000045.1:p.Gly257ValfsTer14
NM_001146151.1:c.770del (AVPR2)	NP_001139623.1:p.Gly257ValfsTer14
NR_027419.1:n.817del (AVPR2)
XM_006724828.2:c.770del (AVPR2)	XP_006724891.1:p.Gly257ValfsTer14
NM_000054.5:c.770del (AVPR2)	NP_000045.1:p.Gly257ValfsTer14
NM_001146151.2:c.770del (AVPR2)	NP_001139623.1:p.Gly257ValfsTer14
XM_006724828.3:c.770del (AVPR2)	XP_006724891.1:p.Gly257ValfsTer14
NM_000054.6:c.770del (AVPR2)	NP_000045.1:p.Gly257ValfsTer14
NM_001146151.3:c.770del (AVPR2)	NP_001139623.1:p.Gly257ValfsTer14
NR_027419.2:n.723del (AVPR2)
NM_000054.7:c.770del (AVPR2) MANE Select	NP_000045.1:p.Gly257ValfsTer14