Canonical Allele Identifier: CA2695236948

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906118dup , CM000685.2:g.153906118dup	GRCh38
NC_000023.10:g.153171572dup , CM000685.1:g.153171572dup	GRCh37
NC_000023.9:g.152824766dup	NCBI36
NG_008687.1:g.6145dup
NG_009645.3:g.8107dup
NG_013220.1:g.25144dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000646375.2:c.612dup (AVPR2) MANE Select	ENSP00000496396.1:p.Tyr205LeufsTer?
ENST00000434679.6:c.125dup (AVPR2)	ENSP00000393397.1:p.Met43TyrfsTer?
ENST00000642393.1:c.97+2953dup
ENST00000646191.1:c.97+2953dup
ENST00000646375.1:c.612dup (AVPR2)	ENSP00000496396.1:p.Tyr205LeufsTer?
ENST00000337474.5:c.612dup (AVPR2)	ENSP00000338072.5:p.Tyr205LeufsTer?
ENST00000358927.6:c.612dup (AVPR2)	ENSP00000351805.2:p.Tyr205LeufsTer?
ENST00000370049.1:c.612dup (AVPR2)	ENSP00000359066.1:p.Tyr205LeufsTer?
ENST00000430697.1:c.612dup (AVPR2)	ENSP00000393513.1:p.Tyr205LeufsTer?
ENST00000434679.5:c.125dup (AVPR2)	ENSP00000393397.1:p.Met43TyrfsTer?
ENST00000464967.5:n.154+2953dup (L1CAM)
NM_000054.4:c.612dup (AVPR2)	NP_000045.1:p.Tyr205LeufsTer?
NM_001146151.1:c.612dup (AVPR2)	NP_001139623.1:p.Tyr205LeufsTer?
NR_027419.1:n.659dup (AVPR2)
XM_006724828.2:c.612dup (AVPR2)	XP_006724891.1:p.Tyr205LeufsTer?
NM_000054.5:c.612dup (AVPR2)	NP_000045.1:p.Tyr205LeufsTer?
NM_001146151.2:c.612dup (AVPR2)	NP_001139623.1:p.Tyr205LeufsTer?
XM_006724828.3:c.612dup (AVPR2)	XP_006724891.1:p.Tyr205LeufsTer?
NM_000054.6:c.612dup (AVPR2)	NP_000045.1:p.Tyr205LeufsTer?
NM_001146151.3:c.612dup (AVPR2)	NP_001139623.1:p.Tyr205LeufsTer?
NR_027419.2:n.565dup (AVPR2)
NM_000054.7:c.612dup (AVPR2) MANE Select	NP_000045.1:p.Tyr205LeufsTer?