Canonical Allele Identifier: CA415110643

Gene: AVPR2 L1CAM

Linked Data

• MyVariant Identifiers: chrX:g.153171999G>C (hg19) ; chrX:g.153906545G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906545G>C , CM000685.2:g.153906545G>C	GRCh38
NC_000023.10:g.153171999G>C , CM000685.1:g.153171999G>C	GRCh37
NC_000023.9:g.152825193G>C	NCBI36
NG_008687.1:g.6572G>C
NG_009645.3:g.7679C>G
NG_013220.1:g.24716C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.933G>C (AVPR2) MANE Select	ENSP00000496396.1:p.Met311Ile
ENST00000434679.6:c.*299G>C (AVPR2)	ENSP00000393397.1:n.*299G>C
ENST00000642393.1:c.97+2525C>G
ENST00000646191.1:c.97+2525C>G
ENST00000646375.1:c.933G>C (AVPR2)	ENSP00000496396.1:p.Met311Ile
ENST00000337474.5:c.933G>C (AVPR2)	ENSP00000338072.5:p.Met311Ile
ENST00000358927.6:c.933G>C (AVPR2)	ENSP00000351805.2:p.Met311Ile
ENST00000370049.1:c.*109G>C (AVPR2)	ENSP00000359066.1:n.*109G>C
ENST00000430697.1:c.845G>C (AVPR2)	ENSP00000393513.1:p.Cys282Ser
ENST00000434679.5:c.*299G>C (AVPR2)	ENSP00000393397.1:n.*299G>C
ENST00000464967.5:n.154+2525C>G (L1CAM)
NM_000054.4:c.933G>C (AVPR2)	NP_000045.1:p.Met311Ile
NM_001146151.1:c.*109G>C (AVPR2)	NP_001139623.1:n.*109G>C
NR_027419.1:n.980G>C (AVPR2)
XM_006724828.2:c.933G>C (AVPR2)	XP_006724891.1:p.Met311Ile
NM_000054.5:c.933G>C (AVPR2)	NP_000045.1:p.Met311Ile
NM_001146151.2:c.*109G>C (AVPR2)	NP_001139623.1:n.*109G>C
XM_006724828.3:c.933G>C (AVPR2)	XP_006724891.1:p.Met311Ile
NM_000054.6:c.933G>C (AVPR2)	NP_000045.1:p.Met311Ile
NM_001146151.3:c.*109G>C (AVPR2)	NP_001139623.1:n.*109G>C
NR_027419.2:n.886G>C (AVPR2)
NM_000054.7:c.933G>C (AVPR2) MANE Select	NP_000045.1:p.Met311Ile