Canonical Allele Identifier: CA415112196

Gene: AVPR2 L1CAM

Linked Data

• MyVariant Identifiers: chrX:g.153172174T>G (hg19) ; chrX:g.153906720T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906720T>G , CM000685.2:g.153906720T>G	GRCh38
NC_000023.10:g.153172174T>G , CM000685.1:g.153172174T>G	GRCh37
NC_000023.9:g.152825368T>G	NCBI36
NG_008687.1:g.6747T>G
NG_009645.3:g.7504A>C
NG_013220.1:g.24541A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.1108T>G (AVPR2) MANE Select	ENSP00000496396.1:p.Ser370Ala
ENST00000434679.6:c.*474T>G (AVPR2)	ENSP00000393397.1:n.*474T>G
ENST00000642393.1:c.97+2350A>C
ENST00000646191.1:c.97+2350A>C
ENST00000646375.1:c.1108T>G (AVPR2)	ENSP00000496396.1:p.Ser370Ala
ENST00000337474.5:c.1108T>G (AVPR2)	ENSP00000338072.5:p.Ser370Ala
ENST00000358927.6:c.1108T>G (AVPR2)	ENSP00000351805.2:p.Ser370Ala
ENST00000370049.1:c.*284T>G (AVPR2)	ENSP00000359066.1:n.*284T>G
ENST00000430697.1:c.1020T>G (AVPR2)	ENSP00000393513.1:p.Leu340=
ENST00000434679.5:c.*474T>G (AVPR2)	ENSP00000393397.1:n.*474T>G
ENST00000464967.5:n.154+2350A>C (L1CAM)
NM_000054.4:c.1108T>G (AVPR2)	NP_000045.1:p.Ser370Ala
NM_001146151.1:c.*284T>G (AVPR2)	NP_001139623.1:n.*284T>G
NR_027419.1:n.1155T>G (AVPR2)
XM_006724828.2:c.1108T>G (AVPR2)	XP_006724891.1:p.Ser370Ala
NM_000054.5:c.1108T>G (AVPR2)	NP_000045.1:p.Ser370Ala
NM_001146151.2:c.*284T>G (AVPR2)	NP_001139623.1:n.*284T>G
XM_006724828.3:c.1108T>G (AVPR2)	XP_006724891.1:p.Ser370Ala
NM_000054.6:c.1108T>G (AVPR2)	NP_000045.1:p.Ser370Ala
NM_001146151.3:c.*284T>G (AVPR2)	NP_001139623.1:n.*284T>G
NR_027419.2:n.1061T>G (AVPR2)
NM_000054.7:c.1108T>G (AVPR2) MANE Select	NP_000045.1:p.Ser370Ala