Canonical Allele Identifier: CA415105641

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 2996060
• ClinVar RCV Id: RCV003856211
• MyVariant Identifiers: chrX:g.153171357A>C (hg19) ; chrX:g.153905903A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905903A>C , CM000685.2:g.153905903A>C	GRCh38
NC_000023.10:g.153171357A>C , CM000685.1:g.153171357A>C	GRCh37
NC_000023.9:g.152824551A>C	NCBI36
NG_008687.1:g.5930A>C
NG_009645.3:g.8321T>G
NG_013220.1:g.25358T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000646375.2:c.397A>C (AVPR2) MANE Select	ENSP00000496396.1:p.Met133Leu
ENST00000434679.6:c.26-116A>C (AVPR2)	ENSP00000393397.1:n.26-116A>C
ENST00000642393.1:c.97+3167T>G
ENST00000646191.1:c.97+3167T>G
ENST00000646375.1:c.397A>C (AVPR2)	ENSP00000496396.1:p.Met133Leu
ENST00000337474.5:c.397A>C (AVPR2)	ENSP00000338072.5:p.Met133Leu
ENST00000358927.6:c.397A>C (AVPR2)	ENSP00000351805.2:p.Met133Leu
ENST00000370049.1:c.397A>C (AVPR2)	ENSP00000359066.1:p.Met133Leu
ENST00000430697.1:c.397A>C (AVPR2)	ENSP00000393513.1:p.Met133Leu
ENST00000434679.5:c.26-116A>C (AVPR2)	ENSP00000393397.1:n.26-116A>C
ENST00000464967.5:n.154+3167T>G (L1CAM)
NM_000054.4:c.397A>C (AVPR2)	NP_000045.1:p.Met133Leu
NM_001146151.1:c.397A>C (AVPR2)	NP_001139623.1:p.Met133Leu
NR_027419.1:n.560-116A>C (AVPR2)
XM_006724828.2:c.397A>C (AVPR2)	XP_006724891.1:p.Met133Leu
NM_000054.5:c.397A>C (AVPR2)	NP_000045.1:p.Met133Leu
NM_001146151.2:c.397A>C (AVPR2)	NP_001139623.1:p.Met133Leu
XM_006724828.3:c.397A>C (AVPR2)	XP_006724891.1:p.Met133Leu
NM_000054.6:c.397A>C (AVPR2)	NP_000045.1:p.Met133Leu
NM_001146151.3:c.397A>C (AVPR2)	NP_001139623.1:p.Met133Leu
NR_027419.2:n.466-116A>C (AVPR2)
NM_000054.7:c.397A>C (AVPR2) MANE Select	NP_000045.1:p.Met133Leu