Canonical Allele Identifier: CA415111701

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153906656-A-C
• MyVariant Identifiers: chrX:g.153172110A>C (hg19) ; chrX:g.153906656A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906656A>C , CM000685.2:g.153906656A>C	GRCh38
NC_000023.10:g.153172110A>C , CM000685.1:g.153172110A>C	GRCh37
NC_000023.9:g.152825304A>C	NCBI36
NG_008687.1:g.6683A>C
NG_009645.3:g.7568T>G
NG_013220.1:g.24605T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.1044A>C (AVPR2) MANE Select	ENSP00000496396.1:p.Pro348=
ENST00000434679.6:c.*410A>C (AVPR2)	ENSP00000393397.1:n.*410A>C
ENST00000642393.1:c.97+2414T>G
ENST00000646191.1:c.97+2414T>G
ENST00000646375.1:c.1044A>C (AVPR2)	ENSP00000496396.1:p.Pro348=
ENST00000337474.5:c.1044A>C (AVPR2)	ENSP00000338072.5:p.Pro348=
ENST00000358927.6:c.1044A>C (AVPR2)	ENSP00000351805.2:p.Pro348=
ENST00000370049.1:c.*220A>C (AVPR2)	ENSP00000359066.1:n.*220A>C
ENST00000430697.1:c.956A>C (AVPR2)	ENSP00000393513.1:p.His319Pro
ENST00000434679.5:c.*410A>C (AVPR2)	ENSP00000393397.1:n.*410A>C
ENST00000464967.5:n.154+2414T>G (L1CAM)
NM_000054.4:c.1044A>C (AVPR2)	NP_000045.1:p.Pro348=
NM_001146151.1:c.*220A>C (AVPR2)	NP_001139623.1:n.*220A>C
NR_027419.1:n.1091A>C (AVPR2)
XM_006724828.2:c.1044A>C (AVPR2)	XP_006724891.1:p.Pro348=
NM_000054.5:c.1044A>C (AVPR2)	NP_000045.1:p.Pro348=
NM_001146151.2:c.*220A>C (AVPR2)	NP_001139623.1:n.*220A>C
XM_006724828.3:c.1044A>C (AVPR2)	XP_006724891.1:p.Pro348=
NM_000054.6:c.1044A>C (AVPR2)	NP_000045.1:p.Pro348=
NM_001146151.3:c.*220A>C (AVPR2)	NP_001139623.1:n.*220A>C
NR_027419.2:n.997A>C (AVPR2)
NM_000054.7:c.1044A>C (AVPR2) MANE Select	NP_000045.1:p.Pro348=