Canonical Allele Identifier: CA415112679

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153906787-C-A
• MyVariant Identifiers: chrX:g.153172241C>A (hg19) ; chrX:g.153906787C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906787C>A , CM000685.2:g.153906787C>A	GRCh38
NC_000023.10:g.153172241C>A , CM000685.1:g.153172241C>A	GRCh37
NC_000023.9:g.152825435C>A	NCBI36
NG_008687.1:g.6814C>A
NG_009645.3:g.7437G>T
NG_013220.1:g.24474G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*59C>A (AVPR2) MANE Select	ENSP00000496396.1:n.*59C>A
ENST00000434679.6:c.*541C>A (AVPR2)	ENSP00000393397.1:n.*541C>A
ENST00000642393.1:c.97+2283G>T
ENST00000646191.1:c.97+2283G>T
ENST00000646375.1:c.*59C>A (AVPR2)	ENSP00000496396.1:n.*59C>A
ENST00000337474.5:c.*59C>A (AVPR2)	ENSP00000338072.5:n.*59C>A
ENST00000358927.6:c.*59C>A (AVPR2)	ENSP00000351805.2:n.*59C>A
ENST00000430697.1:c.1087C>A (AVPR2)	ENSP00000393513.1:p.Leu363Met
ENST00000434679.5:c.*541C>A (AVPR2)	ENSP00000393397.1:n.*541C>A
ENST00000464967.5:n.154+2283G>T (L1CAM)
NM_000054.4:c.*59C>A (AVPR2)	NP_000045.1:n.*59C>A
NM_001146151.1:c.*351C>A (AVPR2)	NP_001139623.1:n.*351C>A
NR_027419.1:n.1222C>A (AVPR2)
XM_006724828.2:c.*59C>A (AVPR2)	XP_006724891.1:n.*59C>A
NM_000054.5:c.*59C>A (AVPR2)	NP_000045.1:n.*59C>A
NM_001146151.2:c.*351C>A (AVPR2)	NP_001139623.1:n.*351C>A
XM_006724828.3:c.*59C>A (AVPR2)	XP_006724891.1:n.*59C>A
NM_000054.6:c.*59C>A (AVPR2)	NP_000045.1:n.*59C>A
NM_001146151.3:c.*351C>A (AVPR2)	NP_001139623.1:n.*351C>A
NR_027419.2:n.1128C>A (AVPR2)
NM_000054.7:c.*59C>A (AVPR2) MANE Select	NP_000045.1:n.*59C>A