Canonical Allele Identifier: CA2695073720

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153906874-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906874C>T , CM000685.2:g.153906874C>T	GRCh38
NC_000023.10:g.153172328C>T , CM000685.1:g.153172328C>T	GRCh37
NC_000023.9:g.152825522C>T	NCBI36
NG_008687.1:g.6901C>T
NG_009645.3:g.7350G>A
NG_013220.1:g.24387G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*146C>T (AVPR2) MANE Select	ENSP00000496396.1:n.*146C>T
ENST00000434679.6:c.*628C>T (AVPR2)	ENSP00000393397.1:n.*628C>T
ENST00000642393.1:c.97+2196G>A
ENST00000646191.1:c.97+2196G>A
ENST00000646375.1:c.*146C>T (AVPR2)	ENSP00000496396.1:n.*146C>T
ENST00000337474.5:c.*146C>T (AVPR2)	ENSP00000338072.5:n.*146C>T
ENST00000358927.6:c.*146C>T (AVPR2)	ENSP00000351805.2:n.*146C>T
ENST00000434679.5:c.*628C>T (AVPR2)	ENSP00000393397.1:n.*628C>T
ENST00000464967.5:n.154+2196G>A (L1CAM)
NM_000054.4:c.*146C>T (AVPR2)	NP_000045.1:n.*146C>T
NM_001146151.1:c.*438C>T (AVPR2)	NP_001139623.1:n.*438C>T
NR_027419.1:n.1309C>T (AVPR2)
XM_006724828.2:c.*146C>T (AVPR2)	XP_006724891.1:n.*146C>T
NM_000054.5:c.*146C>T (AVPR2)	NP_000045.1:n.*146C>T
NM_001146151.2:c.*438C>T (AVPR2)	NP_001139623.1:n.*438C>T
XM_006724828.3:c.*146C>T (AVPR2)	XP_006724891.1:n.*146C>T
NM_000054.6:c.*146C>T (AVPR2)	NP_000045.1:n.*146C>T
NM_001146151.3:c.*438C>T (AVPR2)	NP_001139623.1:n.*438C>T
NR_027419.2:n.1215C>T (AVPR2)
NM_000054.7:c.*146C>T (AVPR2) MANE Select	NP_000045.1:n.*146C>T