Canonical Allele Identifier: CA415112711

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153906794-T-G
• MyVariant Identifiers: chrX:g.153172248T>G (hg19) ; chrX:g.153906794T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906794T>G , CM000685.2:g.153906794T>G	GRCh38
NC_000023.10:g.153172248T>G , CM000685.1:g.153172248T>G	GRCh37
NC_000023.9:g.152825442T>G	NCBI36
NG_008687.1:g.6821T>G
NG_009645.3:g.7430A>C
NG_013220.1:g.24467A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*66T>G (AVPR2) MANE Select	ENSP00000496396.1:n.*66T>G
ENST00000434679.6:c.*548T>G (AVPR2)	ENSP00000393397.1:n.*548T>G
ENST00000642393.1:c.97+2276A>C
ENST00000646191.1:c.97+2276A>C
ENST00000646375.1:c.*66T>G (AVPR2)	ENSP00000496396.1:n.*66T>G
ENST00000337474.5:c.*66T>G (AVPR2)	ENSP00000338072.5:n.*66T>G
ENST00000358927.6:c.*66T>G (AVPR2)	ENSP00000351805.2:n.*66T>G
ENST00000430697.1:c.1094T>G (AVPR2)	ENSP00000393513.1:p.Leu365Arg
ENST00000434679.5:c.*548T>G (AVPR2)	ENSP00000393397.1:n.*548T>G
ENST00000464967.5:n.154+2276A>C (L1CAM)
NM_000054.4:c.*66T>G (AVPR2)	NP_000045.1:n.*66T>G
NM_001146151.1:c.*358T>G (AVPR2)	NP_001139623.1:n.*358T>G
NR_027419.1:n.1229T>G (AVPR2)
XM_006724828.2:c.*66T>G (AVPR2)	XP_006724891.1:n.*66T>G
NM_000054.5:c.*66T>G (AVPR2)	NP_000045.1:n.*66T>G
NM_001146151.2:c.*358T>G (AVPR2)	NP_001139623.1:n.*358T>G
XM_006724828.3:c.*66T>G (AVPR2)	XP_006724891.1:n.*66T>G
NM_000054.6:c.*66T>G (AVPR2)	NP_000045.1:n.*66T>G
NM_001146151.3:c.*358T>G (AVPR2)	NP_001139623.1:n.*358T>G
NR_027419.2:n.1135T>G (AVPR2)
NM_000054.7:c.*66T>G (AVPR2) MANE Select	NP_000045.1:n.*66T>G