Canonical Allele Identifier: CA519667076

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 2847264
• ClinVar RCV Id: RCV003690706
• MyVariant Identifiers: chrX:g.153171542C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906088C>T , CM000685.2:g.153906088C>T	GRCh38
NC_000023.10:g.153171542C>T , CM000685.1:g.153171542C>T	GRCh37
NC_000023.9:g.152824736C>T	NCBI36
NG_008687.1:g.6115C>T
NG_009645.3:g.8136G>A
NG_013220.1:g.25173G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.582C>T (AVPR2) MANE Select	ENSP00000496396.1:p.Ala194=
ENST00000434679.6:c.95C>T (AVPR2)	ENSP00000393397.1:p.Pro32Leu
ENST00000642393.1:c.97+2982G>A
ENST00000646191.1:c.97+2982G>A
ENST00000646375.1:c.582C>T (AVPR2)	ENSP00000496396.1:p.Ala194=
ENST00000337474.5:c.582C>T (AVPR2)	ENSP00000338072.5:p.Ala194=
ENST00000358927.6:c.582C>T (AVPR2)	ENSP00000351805.2:p.Ala194=
ENST00000370049.1:c.582C>T (AVPR2)	ENSP00000359066.1:p.Ala194=
ENST00000430697.1:c.582C>T (AVPR2)	ENSP00000393513.1:p.Ala194=
ENST00000434679.5:c.95C>T (AVPR2)	ENSP00000393397.1:p.Pro32Leu
ENST00000464967.5:n.154+2982G>A (L1CAM)
NM_000054.4:c.582C>T (AVPR2)	NP_000045.1:p.Ala194=
NM_001146151.1:c.582C>T (AVPR2)	NP_001139623.1:p.Ala194=
NR_027419.1:n.629C>T (AVPR2)
XM_006724828.2:c.582C>T (AVPR2)	XP_006724891.1:p.Ala194=
NM_000054.5:c.582C>T (AVPR2)	NP_000045.1:p.Ala194=
NM_001146151.2:c.582C>T (AVPR2)	NP_001139623.1:p.Ala194=
XM_006724828.3:c.582C>T (AVPR2)	XP_006724891.1:p.Ala194=
NM_000054.6:c.582C>T (AVPR2)	NP_000045.1:p.Ala194=
NM_001146151.3:c.582C>T (AVPR2)	NP_001139623.1:p.Ala194=
NR_027419.2:n.535C>T (AVPR2)
NM_000054.7:c.582C>T (AVPR2) MANE Select	NP_000045.1:p.Ala194=