Canonical Allele Identifier: CA415111213

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153906599-C-A
• MyVariant Identifiers: chrX:g.153172053C>A (hg19) ; chrX:g.153906599C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906599C>A , CM000685.2:g.153906599C>A	GRCh38
NC_000023.10:g.153172053C>A , CM000685.1:g.153172053C>A	GRCh37
NC_000023.9:g.152825247C>A	NCBI36
NG_008687.1:g.6626C>A
NG_009645.3:g.7625G>T
NG_013220.1:g.24662G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.987C>A (AVPR2) MANE Select	ENSP00000496396.1:p.Ser329Arg
ENST00000434679.6:c.*353C>A (AVPR2)	ENSP00000393397.1:n.*353C>A
ENST00000642393.1:c.97+2471G>T
ENST00000646191.1:c.97+2471G>T
ENST00000646375.1:c.987C>A (AVPR2)	ENSP00000496396.1:p.Ser329Arg
ENST00000337474.5:c.987C>A (AVPR2)	ENSP00000338072.5:p.Ser329Arg
ENST00000358927.6:c.987C>A (AVPR2)	ENSP00000351805.2:p.Ser329Arg
ENST00000370049.1:c.*163C>A (AVPR2)	ENSP00000359066.1:n.*163C>A
ENST00000430697.1:c.899C>A (AVPR2)	ENSP00000393513.1:p.Ala300Glu
ENST00000434679.5:c.*353C>A (AVPR2)	ENSP00000393397.1:n.*353C>A
ENST00000464967.5:n.154+2471G>T (L1CAM)
NM_000054.4:c.987C>A (AVPR2)	NP_000045.1:p.Ser329Arg
NM_001146151.1:c.*163C>A (AVPR2)	NP_001139623.1:n.*163C>A
NR_027419.1:n.1034C>A (AVPR2)
XM_006724828.2:c.987C>A (AVPR2)	XP_006724891.1:p.Ser329Arg
NM_000054.5:c.987C>A (AVPR2)	NP_000045.1:p.Ser329Arg
NM_001146151.2:c.*163C>A (AVPR2)	NP_001139623.1:n.*163C>A
XM_006724828.3:c.987C>A (AVPR2)	XP_006724891.1:p.Ser329Arg
NM_000054.6:c.987C>A (AVPR2)	NP_000045.1:p.Ser329Arg
NM_001146151.3:c.*163C>A (AVPR2)	NP_001139623.1:n.*163C>A
NR_027419.2:n.940C>A (AVPR2)
NM_000054.7:c.987C>A (AVPR2) MANE Select	NP_000045.1:p.Ser329Arg