Canonical Allele Identifier: CA519667422

Gene: AVPR2 L1CAM

Linked Data

• ClinVar Variation Id: 2996939
• ClinVar RCV Id: RCV003859074
• dbSNP Id: rs2148514709
• gnomAD v4: X-153906121-T-C
• MyVariant Identifiers: chrX:g.153171575T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906121T>C , CM000685.2:g.153906121T>C	GRCh38
NC_000023.10:g.153171575T>C , CM000685.1:g.153171575T>C	GRCh37
NC_000023.9:g.152824769T>C	NCBI36
NG_008687.1:g.6148T>C
NG_009645.3:g.8103A>G
NG_013220.1:g.25140A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000646375.2:c.615T>C (AVPR2) MANE Select	ENSP00000496396.1:p.Tyr205=
ENST00000434679.6:c.128T>C (AVPR2)	ENSP00000393397.1:p.Met43Thr
ENST00000642393.1:c.97+2949A>G
ENST00000646191.1:c.97+2949A>G
ENST00000646375.1:c.615T>C (AVPR2)	ENSP00000496396.1:p.Tyr205=
ENST00000337474.5:c.615T>C (AVPR2)	ENSP00000338072.5:p.Tyr205=
ENST00000358927.6:c.615T>C (AVPR2)	ENSP00000351805.2:p.Tyr205=
ENST00000370049.1:c.615T>C (AVPR2)	ENSP00000359066.1:p.Tyr205=
ENST00000430697.1:c.615T>C (AVPR2)	ENSP00000393513.1:p.Tyr205=
ENST00000434679.5:c.128T>C (AVPR2)	ENSP00000393397.1:p.Met43Thr
ENST00000464967.5:n.154+2949A>G (L1CAM)
NM_000054.4:c.615T>C (AVPR2)	NP_000045.1:p.Tyr205=
NM_001146151.1:c.615T>C (AVPR2)	NP_001139623.1:p.Tyr205=
NR_027419.1:n.662T>C (AVPR2)
XM_006724828.2:c.615T>C (AVPR2)	XP_006724891.1:p.Tyr205=
NM_000054.5:c.615T>C (AVPR2)	NP_000045.1:p.Tyr205=
NM_001146151.2:c.615T>C (AVPR2)	NP_001139623.1:p.Tyr205=
XM_006724828.3:c.615T>C (AVPR2)	XP_006724891.1:p.Tyr205=
NM_000054.6:c.615T>C (AVPR2)	NP_000045.1:p.Tyr205=
NM_001146151.3:c.615T>C (AVPR2)	NP_001139623.1:p.Tyr205=
NR_027419.2:n.568T>C (AVPR2)
NM_000054.7:c.615T>C (AVPR2) MANE Select	NP_000045.1:p.Tyr205=