Canonical Allele Identifier: CA415109201

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153906287-C-T
• MyVariant Identifiers: chrX:g.153171741C>T (hg19) ; chrX:g.153906287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906287C>T , CM000685.2:g.153906287C>T	GRCh38
NC_000023.10:g.153171741C>T , CM000685.1:g.153171741C>T	GRCh37
NC_000023.9:g.152824935C>T	NCBI36
NG_008687.1:g.6314C>T
NG_009645.3:g.7937G>A
NG_013220.1:g.24974G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646375.2:c.781C>T (AVPR2) MANE Select	ENSP00000496396.1:p.His261Tyr
ENST00000434679.6:c.*147C>T (AVPR2)	ENSP00000393397.1:n.*147C>T
ENST00000642393.1:c.97+2783G>A
ENST00000646191.1:c.97+2783G>A
ENST00000646375.1:c.781C>T (AVPR2)	ENSP00000496396.1:p.His261Tyr
ENST00000337474.5:c.781C>T (AVPR2)	ENSP00000338072.5:p.His261Tyr
ENST00000358927.6:c.781C>T (AVPR2)	ENSP00000351805.2:p.His261Tyr
ENST00000370049.1:c.781C>T (AVPR2)	ENSP00000359066.1:p.His261Tyr
ENST00000430697.1:c.781C>T (AVPR2)	ENSP00000393513.1:p.His261Tyr
ENST00000434679.5:c.*147C>T (AVPR2)	ENSP00000393397.1:n.*147C>T
ENST00000464967.5:n.154+2783G>A (L1CAM)
NM_000054.4:c.781C>T (AVPR2)	NP_000045.1:p.His261Tyr
NM_001146151.1:c.781C>T (AVPR2)	NP_001139623.1:p.His261Tyr
NR_027419.1:n.828C>T (AVPR2)
XM_006724828.2:c.781C>T (AVPR2)	XP_006724891.1:p.His261Tyr
NM_000054.5:c.781C>T (AVPR2)	NP_000045.1:p.His261Tyr
NM_001146151.2:c.781C>T (AVPR2)	NP_001139623.1:p.His261Tyr
XM_006724828.3:c.781C>T (AVPR2)	XP_006724891.1:p.His261Tyr
NM_000054.6:c.781C>T (AVPR2)	NP_000045.1:p.His261Tyr
NM_001146151.3:c.781C>T (AVPR2)	NP_001139623.1:p.His261Tyr
NR_027419.2:n.734C>T (AVPR2)
NM_000054.7:c.781C>T (AVPR2) MANE Select	NP_000045.1:p.His261Tyr