Canonical Allele Identifier: CA337264291

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs781842645
• gnomAD v3: X-153906870-T-C
• gnomAD v4: X-153906870-T-C
• MyVariant Identifiers: chrX:g.153172324T>C (hg19) ; chrX:g.153906870T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906870T>C , CM000685.2:g.153906870T>C	GRCh38
NC_000023.10:g.153172324T>C , CM000685.1:g.153172324T>C	GRCh37
NC_000023.9:g.152825518T>C	NCBI36
NG_008687.1:g.6897T>C
NG_009645.3:g.7354A>G
NG_013220.1:g.24391A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*142T>C (AVPR2) MANE Select	ENSP00000496396.1:n.*142T>C
ENST00000434679.6:c.*624T>C (AVPR2)	ENSP00000393397.1:n.*624T>C
ENST00000642393.1:c.97+2200A>G
ENST00000646191.1:c.97+2200A>G
ENST00000646375.1:c.*142T>C (AVPR2)	ENSP00000496396.1:n.*142T>C
ENST00000337474.5:c.*142T>C (AVPR2)	ENSP00000338072.5:n.*142T>C
ENST00000358927.6:c.*142T>C (AVPR2)	ENSP00000351805.2:n.*142T>C
ENST00000434679.5:c.*624T>C (AVPR2)	ENSP00000393397.1:n.*624T>C
ENST00000464967.5:n.154+2200A>G (L1CAM)
NM_000054.4:c.*142T>C (AVPR2)	NP_000045.1:n.*142T>C
NM_001146151.1:c.*434T>C (AVPR2)	NP_001139623.1:n.*434T>C
NR_027419.1:n.1305T>C (AVPR2)
XM_006724828.2:c.*142T>C (AVPR2)	XP_006724891.1:n.*142T>C
NM_000054.5:c.*142T>C (AVPR2)	NP_000045.1:n.*142T>C
NM_001146151.2:c.*434T>C (AVPR2)	NP_001139623.1:n.*434T>C
XM_006724828.3:c.*142T>C (AVPR2)	XP_006724891.1:n.*142T>C
NM_000054.6:c.*142T>C (AVPR2)	NP_000045.1:n.*142T>C
NM_001146151.3:c.*434T>C (AVPR2)	NP_001139623.1:n.*434T>C
NR_027419.2:n.1211T>C (AVPR2)
NM_000054.7:c.*142T>C (AVPR2) MANE Select	NP_000045.1:n.*142T>C