Canonical Allele Identifier: CA2739239639

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs2148513945

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905345_153905356dup , CM000685.2:g.153905345_153905356dup	GRCh38
NC_000023.10:g.153170799_153170810dup , CM000685.1:g.153170799_153170810dup	GRCh37
NC_000023.9:g.152823993_152824004dup	NCBI36
NG_008687.1:g.5372_5383dup
NG_009645.3:g.8868_8879dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.25+175_26-176dup (AVPR2) MANE Select	ENSP00000496396.1:n.25+175_26-176dup
ENST00000434679.6:c.25+175_25+186dup (AVPR2)	ENSP00000393397.1:n.25+175_25+186dup
ENST00000642393.1:c.97+3714_97+3725dup
ENST00000646191.1:c.97+3714_97+3725dup
ENST00000646375.1:c.25+175_26-176dup (AVPR2)	ENSP00000496396.1:n.25+175_26-176dup
ENST00000337474.5:c.25+175_26-176dup (AVPR2)	ENSP00000338072.5:n.25+175_26-176dup
ENST00000358927.6:c.25+175_26-176dup (AVPR2)	ENSP00000351805.2:n.25+175_26-176dup
ENST00000370049.1:c.25+175_26-176dup (AVPR2)	ENSP00000359066.1:n.25+175_26-176dup
ENST00000430697.1:c.25+175_26-176dup (AVPR2)	ENSP00000393513.1:n.25+175_26-176dup
ENST00000434679.5:c.25+175_25+186dup (AVPR2)	ENSP00000393397.1:n.25+175_25+186dup
ENST00000464967.5:n.154+3714_154+3725dup (L1CAM)
NM_000054.4:c.25+175_26-176dup (AVPR2)	NP_000045.1:n.25+175_26-176dup
NM_001146151.1:c.25+175_26-176dup (AVPR2)	NP_001139623.1:n.25+175_26-176dup
NR_027419.1:n.559+175_559+186dup (AVPR2)
XM_006724828.2:c.25+175_26-176dup (AVPR2)	XP_006724891.1:n.25+175_26-176dup
NM_000054.5:c.25+175_26-176dup (AVPR2)	NP_000045.1:n.25+175_26-176dup
NM_001146151.2:c.25+175_26-176dup (AVPR2)	NP_001139623.1:n.25+175_26-176dup
XM_006724828.3:c.25+175_26-176dup (AVPR2)	XP_006724891.1:n.25+175_26-176dup
NM_000054.6:c.25+175_26-176dup (AVPR2)	NP_000045.1:n.25+175_26-176dup
NM_001146151.3:c.25+175_26-176dup (AVPR2)	NP_001139623.1:n.25+175_26-176dup
NR_027419.2:n.465+175_465+186dup (AVPR2)
NM_000054.7:c.25+175_26-176dup (AVPR2) MANE Select	NP_000045.1:n.25+175_26-176dup