Canonical Allele Identifier: CA645158875

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs1557101214
• gnomAD v2: X-153172292-T-C
• gnomAD v4: X-153906838-T-C
• MyVariant Identifiers: chrX:g.153172292T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906838T>C , CM000685.2:g.153906838T>C	GRCh38
NC_000023.10:g.153172292T>C , CM000685.1:g.153172292T>C	GRCh37
NC_000023.9:g.152825486T>C	NCBI36
NG_008687.1:g.6865T>C
NG_009645.3:g.7386A>G
NG_013220.1:g.24423A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*110T>C (AVPR2) MANE Select	ENSP00000496396.1:n.*110T>C
ENST00000434679.6:c.*592T>C (AVPR2)	ENSP00000393397.1:n.*592T>C
ENST00000642393.1:c.97+2232A>G
ENST00000646191.1:c.97+2232A>G
ENST00000646375.1:c.*110T>C (AVPR2)	ENSP00000496396.1:n.*110T>C
ENST00000337474.5:c.*110T>C (AVPR2)	ENSP00000338072.5:n.*110T>C
ENST00000358927.6:c.*110T>C (AVPR2)	ENSP00000351805.2:n.*110T>C
ENST00000434679.5:c.*592T>C (AVPR2)	ENSP00000393397.1:n.*592T>C
ENST00000464967.5:n.154+2232A>G (L1CAM)
NM_000054.4:c.*110T>C (AVPR2)	NP_000045.1:n.*110T>C
NM_001146151.1:c.*402T>C (AVPR2)	NP_001139623.1:n.*402T>C
NR_027419.1:n.1273T>C (AVPR2)
XM_006724828.2:c.*110T>C (AVPR2)	XP_006724891.1:n.*110T>C
NM_000054.5:c.*110T>C (AVPR2)	NP_000045.1:n.*110T>C
NM_001146151.2:c.*402T>C (AVPR2)	NP_001139623.1:n.*402T>C
XM_006724828.3:c.*110T>C (AVPR2)	XP_006724891.1:n.*110T>C
NM_000054.6:c.*110T>C (AVPR2)	NP_000045.1:n.*110T>C
NM_001146151.3:c.*402T>C (AVPR2)	NP_001139623.1:n.*402T>C
NR_027419.2:n.1179T>C (AVPR2)
NM_000054.7:c.*110T>C (AVPR2) MANE Select	NP_000045.1:n.*110T>C