Canonical Allele Identifier: CA10555161

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 368081
• ClinVar RCV Id: RCV000306918
• dbSNP Id: rs782141948
• ExAC: X:153172318 T / G
• gnomAD v2: X-153172318-T-G
• gnomAD v3: X-153906864-T-G
• gnomAD v4: X-153906864-T-G
• MyVariant Identifiers: chrX:g.153172318T>G (hg19) ; chrX:g.153906864T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906864T>G , CM000685.2:g.153906864T>G	GRCh38
NC_000023.10:g.153172318T>G , CM000685.1:g.153172318T>G	GRCh37
NC_000023.9:g.152825512T>G	NCBI36
NG_008687.1:g.6891T>G
NG_009645.3:g.7360A>C
NG_013220.1:g.24397A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*136T>G (AVPR2) MANE Select	ENSP00000496396.1:n.*136T>G
ENST00000434679.6:c.*618T>G (AVPR2)	ENSP00000393397.1:n.*618T>G
ENST00000642393.1:c.97+2206A>C
ENST00000646191.1:c.97+2206A>C
ENST00000646375.1:c.*136T>G (AVPR2)	ENSP00000496396.1:n.*136T>G
ENST00000337474.5:c.*136T>G (AVPR2)	ENSP00000338072.5:n.*136T>G
ENST00000358927.6:c.*136T>G (AVPR2)	ENSP00000351805.2:n.*136T>G
ENST00000434679.5:c.*618T>G (AVPR2)	ENSP00000393397.1:n.*618T>G
ENST00000464967.5:n.154+2206A>C (L1CAM)
NM_000054.4:c.*136T>G (AVPR2)	NP_000045.1:n.*136T>G
NM_001146151.1:c.*428T>G (AVPR2)	NP_001139623.1:n.*428T>G
NR_027419.1:n.1299T>G (AVPR2)
XM_006724828.2:c.*136T>G (AVPR2)	XP_006724891.1:n.*136T>G
NM_000054.5:c.*136T>G (AVPR2)	NP_000045.1:n.*136T>G
NM_001146151.2:c.*428T>G (AVPR2)	NP_001139623.1:n.*428T>G
XM_006724828.3:c.*136T>G (AVPR2)	XP_006724891.1:n.*136T>G
NM_000054.6:c.*136T>G (AVPR2)	NP_000045.1:n.*136T>G
NM_001146151.3:c.*428T>G (AVPR2)	NP_001139623.1:n.*428T>G
NR_027419.2:n.1205T>G (AVPR2)
NM_000054.7:c.*136T>G (AVPR2) MANE Select	NP_000045.1:n.*136T>G