Canonical Allele Identifier: CA645158874

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs1557101208
• gnomAD v2: X-153172289-G-A
• gnomAD v4: X-153906835-G-A
• MyVariant Identifiers: chrX:g.153172289G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906835G>A , CM000685.2:g.153906835G>A	GRCh38
NC_000023.10:g.153172289G>A , CM000685.1:g.153172289G>A	GRCh37
NC_000023.9:g.152825483G>A	NCBI36
NG_008687.1:g.6862G>A
NG_009645.3:g.7389C>T
NG_013220.1:g.24426C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*107G>A (AVPR2) MANE Select	ENSP00000496396.1:n.*107G>A
ENST00000434679.6:c.*589G>A (AVPR2)	ENSP00000393397.1:n.*589G>A
ENST00000642393.1:c.97+2235C>T
ENST00000646191.1:c.97+2235C>T
ENST00000646375.1:c.*107G>A (AVPR2)	ENSP00000496396.1:n.*107G>A
ENST00000337474.5:c.*107G>A (AVPR2)	ENSP00000338072.5:n.*107G>A
ENST00000358927.6:c.*107G>A (AVPR2)	ENSP00000351805.2:n.*107G>A
ENST00000434679.5:c.*589G>A (AVPR2)	ENSP00000393397.1:n.*589G>A
ENST00000464967.5:n.154+2235C>T (L1CAM)
NM_000054.4:c.*107G>A (AVPR2)	NP_000045.1:n.*107G>A
NM_001146151.1:c.*399G>A (AVPR2)	NP_001139623.1:n.*399G>A
NR_027419.1:n.1270G>A (AVPR2)
XM_006724828.2:c.*107G>A (AVPR2)	XP_006724891.1:n.*107G>A
NM_000054.5:c.*107G>A (AVPR2)	NP_000045.1:n.*107G>A
NM_001146151.2:c.*399G>A (AVPR2)	NP_001139623.1:n.*399G>A
XM_006724828.3:c.*107G>A (AVPR2)	XP_006724891.1:n.*107G>A
NM_000054.6:c.*107G>A (AVPR2)	NP_000045.1:n.*107G>A
NM_001146151.3:c.*399G>A (AVPR2)	NP_001139623.1:n.*399G>A
NR_027419.2:n.1176G>A (AVPR2)
NM_000054.7:c.*107G>A (AVPR2) MANE Select	NP_000045.1:n.*107G>A