Canonical Allele Identifier: CA415107479

Gene: AVPR2 L1CAM

Linked Data

• MyVariant Identifiers: chrX:g.153171553A>C (hg19) ; chrX:g.153906099A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906099A>C , CM000685.2:g.153906099A>C	GRCh38
NC_000023.10:g.153171553A>C , CM000685.1:g.153171553A>C	GRCh37
NC_000023.9:g.152824747A>C	NCBI36
NG_008687.1:g.6126A>C
NG_009645.3:g.8125T>G
NG_013220.1:g.25162T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.593A>C (AVPR2) MANE Select	ENSP00000496396.1:p.Glu198Ala
ENST00000434679.6:c.106A>C (AVPR2)	ENSP00000393397.1:p.Ser36Arg
ENST00000642393.1:c.97+2971T>G
ENST00000646191.1:c.97+2971T>G
ENST00000646375.1:c.593A>C (AVPR2)	ENSP00000496396.1:p.Glu198Ala
ENST00000337474.5:c.593A>C (AVPR2)	ENSP00000338072.5:p.Glu198Ala
ENST00000358927.6:c.593A>C (AVPR2)	ENSP00000351805.2:p.Glu198Ala
ENST00000370049.1:c.593A>C (AVPR2)	ENSP00000359066.1:p.Glu198Ala
ENST00000430697.1:c.593A>C (AVPR2)	ENSP00000393513.1:p.Glu198Ala
ENST00000434679.5:c.106A>C (AVPR2)	ENSP00000393397.1:p.Ser36Arg
ENST00000464967.5:n.154+2971T>G (L1CAM)
NM_000054.4:c.593A>C (AVPR2)	NP_000045.1:p.Glu198Ala
NM_001146151.1:c.593A>C (AVPR2)	NP_001139623.1:p.Glu198Ala
NR_027419.1:n.640A>C (AVPR2)
XM_006724828.2:c.593A>C (AVPR2)	XP_006724891.1:p.Glu198Ala
NM_000054.5:c.593A>C (AVPR2)	NP_000045.1:p.Glu198Ala
NM_001146151.2:c.593A>C (AVPR2)	NP_001139623.1:p.Glu198Ala
XM_006724828.3:c.593A>C (AVPR2)	XP_006724891.1:p.Glu198Ala
NM_000054.6:c.593A>C (AVPR2)	NP_000045.1:p.Glu198Ala
NM_001146151.3:c.593A>C (AVPR2)	NP_001139623.1:p.Glu198Ala
NR_027419.2:n.546A>C (AVPR2)
NM_000054.7:c.593A>C (AVPR2) MANE Select	NP_000045.1:p.Glu198Ala