Canonical Allele Identifier: CA10555162

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs782117311
• ExAC: X:153172327 A / G
• gnomAD v2: X-153172327-A-G
• gnomAD v3: X-153906873-A-G
• gnomAD v4: X-153906873-A-G
• MyVariant Identifiers: chrX:g.153172327A>G (hg19) ; chrX:g.153906873A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906873A>G , CM000685.2:g.153906873A>G	GRCh38
NC_000023.10:g.153172327A>G , CM000685.1:g.153172327A>G	GRCh37
NC_000023.9:g.152825521A>G	NCBI36
NG_008687.1:g.6900A>G
NG_009645.3:g.7351T>C
NG_013220.1:g.24388T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*145A>G (AVPR2) MANE Select	ENSP00000496396.1:n.*145A>G
ENST00000434679.6:c.*627A>G (AVPR2)	ENSP00000393397.1:n.*627A>G
ENST00000642393.1:c.97+2197T>C
ENST00000646191.1:c.97+2197T>C
ENST00000646375.1:c.*145A>G (AVPR2)	ENSP00000496396.1:n.*145A>G
ENST00000337474.5:c.*145A>G (AVPR2)	ENSP00000338072.5:n.*145A>G
ENST00000358927.6:c.*145A>G (AVPR2)	ENSP00000351805.2:n.*145A>G
ENST00000434679.5:c.*627A>G (AVPR2)	ENSP00000393397.1:n.*627A>G
ENST00000464967.5:n.154+2197T>C (L1CAM)
NM_000054.4:c.*145A>G (AVPR2)	NP_000045.1:n.*145A>G
NM_001146151.1:c.*437A>G (AVPR2)	NP_001139623.1:n.*437A>G
NR_027419.1:n.1308A>G (AVPR2)
XM_006724828.2:c.*145A>G (AVPR2)	XP_006724891.1:n.*145A>G
NM_000054.5:c.*145A>G (AVPR2)	NP_000045.1:n.*145A>G
NM_001146151.2:c.*437A>G (AVPR2)	NP_001139623.1:n.*437A>G
XM_006724828.3:c.*145A>G (AVPR2)	XP_006724891.1:n.*145A>G
NM_000054.6:c.*145A>G (AVPR2)	NP_000045.1:n.*145A>G
NM_001146151.3:c.*437A>G (AVPR2)	NP_001139623.1:n.*437A>G
NR_027419.2:n.1214A>G (AVPR2)
NM_000054.7:c.*145A>G (AVPR2) MANE Select	NP_000045.1:n.*145A>G