Canonical Allele Identifier: CA337264272

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs1009194381
• gnomAD v4: X-153906851-C-T
• MyVariant Identifiers: chrX:g.153906851C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906851C>T , CM000685.2:g.153906851C>T	GRCh38
NC_000023.10:g.153172305C>T , CM000685.1:g.153172305C>T	GRCh37
NC_000023.9:g.152825499C>T	NCBI36
NG_008687.1:g.6878C>T
NG_009645.3:g.7373G>A
NG_013220.1:g.24410G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*123C>T (AVPR2) MANE Select	ENSP00000496396.1:n.*123C>T
ENST00000434679.6:c.*605C>T (AVPR2)	ENSP00000393397.1:n.*605C>T
ENST00000642393.1:c.97+2219G>A
ENST00000646191.1:c.97+2219G>A
ENST00000646375.1:c.*123C>T (AVPR2)	ENSP00000496396.1:n.*123C>T
ENST00000337474.5:c.*123C>T (AVPR2)	ENSP00000338072.5:n.*123C>T
ENST00000358927.6:c.*123C>T (AVPR2)	ENSP00000351805.2:n.*123C>T
ENST00000434679.5:c.*605C>T (AVPR2)	ENSP00000393397.1:n.*605C>T
ENST00000464967.5:n.154+2219G>A (L1CAM)
NM_000054.4:c.*123C>T (AVPR2)	NP_000045.1:n.*123C>T
NM_001146151.1:c.*415C>T (AVPR2)	NP_001139623.1:n.*415C>T
NR_027419.1:n.1286C>T (AVPR2)
XM_006724828.2:c.*123C>T (AVPR2)	XP_006724891.1:n.*123C>T
NM_000054.5:c.*123C>T (AVPR2)	NP_000045.1:n.*123C>T
NM_001146151.2:c.*415C>T (AVPR2)	NP_001139623.1:n.*415C>T
XM_006724828.3:c.*123C>T (AVPR2)	XP_006724891.1:n.*123C>T
NM_000054.6:c.*123C>T (AVPR2)	NP_000045.1:n.*123C>T
NM_001146151.3:c.*415C>T (AVPR2)	NP_001139623.1:n.*415C>T
NR_027419.2:n.1192C>T (AVPR2)
NM_000054.7:c.*123C>T (AVPR2) MANE Select	NP_000045.1:n.*123C>T