Canonical Allele Identifier: CA645158866

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs1347705485
• gnomAD v2: X-153172280-T-C
• gnomAD v4: X-153906826-T-C
• MyVariant Identifiers: chrX:g.153172280T>C (hg19) ; chrX:g.153906826T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906826T>C , CM000685.2:g.153906826T>C	GRCh38
NC_000023.10:g.153172280T>C , CM000685.1:g.153172280T>C	GRCh37
NC_000023.9:g.152825474T>C	NCBI36
NG_008687.1:g.6853T>C
NG_009645.3:g.7398A>G
NG_013220.1:g.24435A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*98T>C (AVPR2) MANE Select	ENSP00000496396.1:n.*98T>C
ENST00000434679.6:c.*580T>C (AVPR2)	ENSP00000393397.1:n.*580T>C
ENST00000642393.1:c.97+2244A>G
ENST00000646191.1:c.97+2244A>G
ENST00000646375.1:c.*98T>C (AVPR2)	ENSP00000496396.1:n.*98T>C
ENST00000337474.5:c.*98T>C (AVPR2)	ENSP00000338072.5:n.*98T>C
ENST00000358927.6:c.*98T>C (AVPR2)	ENSP00000351805.2:n.*98T>C
ENST00000434679.5:c.*580T>C (AVPR2)	ENSP00000393397.1:n.*580T>C
ENST00000464967.5:n.154+2244A>G (L1CAM)
NM_000054.4:c.*98T>C (AVPR2)	NP_000045.1:n.*98T>C
NM_001146151.1:c.*390T>C (AVPR2)	NP_001139623.1:n.*390T>C
NR_027419.1:n.1261T>C (AVPR2)
XM_006724828.2:c.*98T>C (AVPR2)	XP_006724891.1:n.*98T>C
NM_000054.5:c.*98T>C (AVPR2)	NP_000045.1:n.*98T>C
NM_001146151.2:c.*390T>C (AVPR2)	NP_001139623.1:n.*390T>C
XM_006724828.3:c.*98T>C (AVPR2)	XP_006724891.1:n.*98T>C
NM_000054.6:c.*98T>C (AVPR2)	NP_000045.1:n.*98T>C
NM_001146151.3:c.*390T>C (AVPR2)	NP_001139623.1:n.*390T>C
NR_027419.2:n.1167T>C (AVPR2)
NM_000054.7:c.*98T>C (AVPR2) MANE Select	NP_000045.1:n.*98T>C