Canonical Allele Identifier: CA415112314

Gene: AVPR2 L1CAM

Linked Data

• MyVariant Identifiers: chrX:g.153172191T>C (hg19) ; chrX:g.153906737T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906737T>C , CM000685.2:g.153906737T>C	GRCh38
NC_000023.10:g.153172191T>C , CM000685.1:g.153172191T>C	GRCh37
NC_000023.9:g.152825385T>C	NCBI36
NG_008687.1:g.6764T>C
NG_009645.3:g.7487A>G
NG_013220.1:g.24524A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*9T>C (AVPR2) MANE Select	ENSP00000496396.1:n.*9T>C
ENST00000434679.6:c.*491T>C (AVPR2)	ENSP00000393397.1:n.*491T>C
ENST00000642393.1:c.97+2333A>G
ENST00000646191.1:c.97+2333A>G
ENST00000646375.1:c.*9T>C (AVPR2)	ENSP00000496396.1:n.*9T>C
ENST00000337474.5:c.*9T>C (AVPR2)	ENSP00000338072.5:n.*9T>C
ENST00000358927.6:c.*9T>C (AVPR2)	ENSP00000351805.2:n.*9T>C
ENST00000370049.1:c.*301T>C (AVPR2)	ENSP00000359066.1:n.*301T>C
ENST00000430697.1:c.1037T>C (AVPR2)	ENSP00000393513.1:p.Leu346Ser
ENST00000434679.5:c.*491T>C (AVPR2)	ENSP00000393397.1:n.*491T>C
ENST00000464967.5:n.154+2333A>G (L1CAM)
NM_000054.4:c.*9T>C (AVPR2)	NP_000045.1:n.*9T>C
NM_001146151.1:c.*301T>C (AVPR2)	NP_001139623.1:n.*301T>C
NR_027419.1:n.1172T>C (AVPR2)
XM_006724828.2:c.*9T>C (AVPR2)	XP_006724891.1:n.*9T>C
NM_000054.5:c.*9T>C (AVPR2)	NP_000045.1:n.*9T>C
NM_001146151.2:c.*301T>C (AVPR2)	NP_001139623.1:n.*301T>C
XM_006724828.3:c.*9T>C (AVPR2)	XP_006724891.1:n.*9T>C
NM_000054.6:c.*9T>C (AVPR2)	NP_000045.1:n.*9T>C
NM_001146151.3:c.*301T>C (AVPR2)	NP_001139623.1:n.*301T>C
NR_027419.2:n.1078T>C (AVPR2)
NM_000054.7:c.*9T>C (AVPR2) MANE Select	NP_000045.1:n.*9T>C