Canonical Allele Identifier: CA10555160

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 368080
• ClinVar RCV Id: RCV000396692
• dbSNP Id: rs782022257
• ExAC: X:153172311 C / T
• gnomAD v2: X-153172311-C-T
• gnomAD v4: X-153906857-C-T
• MyVariant Identifiers: chrX:g.153172311C>T (hg19) ; chrX:g.153906857C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906857C>T , CM000685.2:g.153906857C>T	GRCh38
NC_000023.10:g.153172311C>T , CM000685.1:g.153172311C>T	GRCh37
NC_000023.9:g.152825505C>T	NCBI36
NG_008687.1:g.6884C>T
NG_009645.3:g.7367G>A
NG_013220.1:g.24404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*129C>T (AVPR2) MANE Select	ENSP00000496396.1:n.*129C>T
ENST00000434679.6:c.*611C>T (AVPR2)	ENSP00000393397.1:n.*611C>T
ENST00000642393.1:c.97+2213G>A
ENST00000646191.1:c.97+2213G>A
ENST00000646375.1:c.*129C>T (AVPR2)	ENSP00000496396.1:n.*129C>T
ENST00000337474.5:c.*129C>T (AVPR2)	ENSP00000338072.5:n.*129C>T
ENST00000358927.6:c.*129C>T (AVPR2)	ENSP00000351805.2:n.*129C>T
ENST00000434679.5:c.*611C>T (AVPR2)	ENSP00000393397.1:n.*611C>T
ENST00000464967.5:n.154+2213G>A (L1CAM)
NM_000054.4:c.*129C>T (AVPR2)	NP_000045.1:n.*129C>T
NM_001146151.1:c.*421C>T (AVPR2)	NP_001139623.1:n.*421C>T
NR_027419.1:n.1292C>T (AVPR2)
XM_006724828.2:c.*129C>T (AVPR2)	XP_006724891.1:n.*129C>T
NM_000054.5:c.*129C>T (AVPR2)	NP_000045.1:n.*129C>T
NM_001146151.2:c.*421C>T (AVPR2)	NP_001139623.1:n.*421C>T
XM_006724828.3:c.*129C>T (AVPR2)	XP_006724891.1:n.*129C>T
NM_000054.6:c.*129C>T (AVPR2)	NP_000045.1:n.*129C>T
NM_001146151.3:c.*421C>T (AVPR2)	NP_001139623.1:n.*421C>T
NR_027419.2:n.1198C>T (AVPR2)
NM_000054.7:c.*129C>T (AVPR2) MANE Select	NP_000045.1:n.*129C>T