Canonical Allele Identifier: CA415110720

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153906554-C-T
• MyVariant Identifiers: chrX:g.153172008C>T (hg19) ; chrX:g.153906554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906554C>T , CM000685.2:g.153906554C>T	GRCh38
NC_000023.10:g.153172008C>T , CM000685.1:g.153172008C>T	GRCh37
NC_000023.9:g.152825202C>T	NCBI36
NG_008687.1:g.6581C>T
NG_009645.3:g.7670G>A
NG_013220.1:g.24707G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.942C>T (AVPR2) MANE Select	ENSP00000496396.1:p.Ala314=
ENST00000434679.6:c.*308C>T (AVPR2)	ENSP00000393397.1:n.*308C>T
ENST00000642393.1:c.97+2516G>A
ENST00000646191.1:c.97+2516G>A
ENST00000646375.1:c.942C>T (AVPR2)	ENSP00000496396.1:p.Ala314=
ENST00000337474.5:c.942C>T (AVPR2)	ENSP00000338072.5:p.Ala314=
ENST00000358927.6:c.942C>T (AVPR2)	ENSP00000351805.2:p.Ala314=
ENST00000370049.1:c.*118C>T (AVPR2)	ENSP00000359066.1:n.*118C>T
ENST00000430697.1:c.854C>T (AVPR2)	ENSP00000393513.1:p.Pro285Leu
ENST00000434679.5:c.*308C>T (AVPR2)	ENSP00000393397.1:n.*308C>T
ENST00000464967.5:n.154+2516G>A (L1CAM)
NM_000054.4:c.942C>T (AVPR2)	NP_000045.1:p.Ala314=
NM_001146151.1:c.*118C>T (AVPR2)	NP_001139623.1:n.*118C>T
NR_027419.1:n.989C>T (AVPR2)
XM_006724828.2:c.942C>T (AVPR2)	XP_006724891.1:p.Ala314=
NM_000054.5:c.942C>T (AVPR2)	NP_000045.1:p.Ala314=
NM_001146151.2:c.*118C>T (AVPR2)	NP_001139623.1:n.*118C>T
XM_006724828.3:c.942C>T (AVPR2)	XP_006724891.1:p.Ala314=
NM_000054.6:c.942C>T (AVPR2)	NP_000045.1:p.Ala314=
NM_001146151.3:c.*118C>T (AVPR2)	NP_001139623.1:n.*118C>T
NR_027419.2:n.895C>T (AVPR2)
NM_000054.7:c.942C>T (AVPR2) MANE Select	NP_000045.1:p.Ala314=