Canonical Allele Identifier: CA2579733581

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153906792-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906792C>A , CM000685.2:g.153906792C>A	GRCh38
NC_000023.10:g.153172246C>A , CM000685.1:g.153172246C>A	GRCh37
NC_000023.9:g.152825440C>A	NCBI36
NG_008687.1:g.6819C>A
NG_009645.3:g.7432G>T
NG_013220.1:g.24469G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*64C>A (AVPR2) MANE Select	ENSP00000496396.1:n.*64C>A
ENST00000434679.6:c.*546C>A (AVPR2)	ENSP00000393397.1:n.*546C>A
ENST00000642393.1:c.97+2278G>T
ENST00000646191.1:c.97+2278G>T
ENST00000646375.1:c.*64C>A (AVPR2)	ENSP00000496396.1:n.*64C>A
ENST00000337474.5:c.*64C>A (AVPR2)	ENSP00000338072.5:n.*64C>A
ENST00000358927.6:c.*64C>A (AVPR2)	ENSP00000351805.2:n.*64C>A
ENST00000430697.1:c.1092C>A (AVPR2)	ENSP00000393513.1:p.Val364=
ENST00000434679.5:c.*546C>A (AVPR2)	ENSP00000393397.1:n.*546C>A
ENST00000464967.5:n.154+2278G>T (L1CAM)
NM_000054.4:c.*64C>A (AVPR2)	NP_000045.1:n.*64C>A
NM_001146151.1:c.*356C>A (AVPR2)	NP_001139623.1:n.*356C>A
NR_027419.1:n.1227C>A (AVPR2)
XM_006724828.2:c.*64C>A (AVPR2)	XP_006724891.1:n.*64C>A
NM_000054.5:c.*64C>A (AVPR2)	NP_000045.1:n.*64C>A
NM_001146151.2:c.*356C>A (AVPR2)	NP_001139623.1:n.*356C>A
XM_006724828.3:c.*64C>A (AVPR2)	XP_006724891.1:n.*64C>A
NM_000054.6:c.*64C>A (AVPR2)	NP_000045.1:n.*64C>A
NM_001146151.3:c.*356C>A (AVPR2)	NP_001139623.1:n.*356C>A
NR_027419.2:n.1133C>A (AVPR2)
NM_000054.7:c.*64C>A (AVPR2) MANE Select	NP_000045.1:n.*64C>A