Canonical Allele Identifier: CA2695073694

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153906840-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906840T>C , CM000685.2:g.153906840T>C	GRCh38
NC_000023.10:g.153172294T>C , CM000685.1:g.153172294T>C	GRCh37
NC_000023.9:g.152825488T>C	NCBI36
NG_008687.1:g.6867T>C
NG_009645.3:g.7384A>G
NG_013220.1:g.24421A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*112T>C (AVPR2) MANE Select	ENSP00000496396.1:n.*112T>C
ENST00000434679.6:c.*594T>C (AVPR2)	ENSP00000393397.1:n.*594T>C
ENST00000642393.1:c.97+2230A>G
ENST00000646191.1:c.97+2230A>G
ENST00000646375.1:c.*112T>C (AVPR2)	ENSP00000496396.1:n.*112T>C
ENST00000337474.5:c.*112T>C (AVPR2)	ENSP00000338072.5:n.*112T>C
ENST00000358927.6:c.*112T>C (AVPR2)	ENSP00000351805.2:n.*112T>C
ENST00000434679.5:c.*594T>C (AVPR2)	ENSP00000393397.1:n.*594T>C
ENST00000464967.5:n.154+2230A>G (L1CAM)
NM_000054.4:c.*112T>C (AVPR2)	NP_000045.1:n.*112T>C
NM_001146151.1:c.*404T>C (AVPR2)	NP_001139623.1:n.*404T>C
NR_027419.1:n.1275T>C (AVPR2)
XM_006724828.2:c.*112T>C (AVPR2)	XP_006724891.1:n.*112T>C
NM_000054.5:c.*112T>C (AVPR2)	NP_000045.1:n.*112T>C
NM_001146151.2:c.*404T>C (AVPR2)	NP_001139623.1:n.*404T>C
XM_006724828.3:c.*112T>C (AVPR2)	XP_006724891.1:n.*112T>C
NM_000054.6:c.*112T>C (AVPR2)	NP_000045.1:n.*112T>C
NM_001146151.3:c.*404T>C (AVPR2)	NP_001139623.1:n.*404T>C
NR_027419.2:n.1181T>C (AVPR2)
NM_000054.7:c.*112T>C (AVPR2) MANE Select	NP_000045.1:n.*112T>C