Canonical Allele Identifier: CA415103235

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs1557100409
• gnomAD v2: X-153170997-C-T
• MyVariant Identifiers: chrX:g.153170997C>T (hg19) ; chrX:g.153905543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905543C>T , CM000685.2:g.153905543C>T	GRCh38
NC_000023.10:g.153170997C>T , CM000685.1:g.153170997C>T	GRCh37
NC_000023.9:g.152824191C>T	NCBI36
NG_008687.1:g.5570C>T
NG_009645.3:g.8681G>A
NG_013220.1:g.25718G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646375.2:c.37C>T (AVPR2) MANE Select	ENSP00000496396.1:p.His13Tyr
ENST00000434679.6:c.25+373C>T (AVPR2)	ENSP00000393397.1:n.25+373C>T
ENST00000642393.1:c.97+3527G>A
ENST00000646191.1:c.97+3527G>A
ENST00000646375.1:c.37C>T (AVPR2)	ENSP00000496396.1:p.His13Tyr
ENST00000337474.5:c.37C>T (AVPR2)	ENSP00000338072.5:p.His13Tyr
ENST00000358927.6:c.37C>T (AVPR2)	ENSP00000351805.2:p.His13Tyr
ENST00000370049.1:c.37C>T (AVPR2)	ENSP00000359066.1:p.His13Tyr
ENST00000430697.1:c.37C>T (AVPR2)	ENSP00000393513.1:p.His13Tyr
ENST00000434679.5:c.25+373C>T (AVPR2)	ENSP00000393397.1:n.25+373C>T
ENST00000464967.5:n.154+3527G>A (L1CAM)
NM_000054.4:c.37C>T (AVPR2)	NP_000045.1:p.His13Tyr
NM_001146151.1:c.37C>T (AVPR2)	NP_001139623.1:p.His13Tyr
NR_027419.1:n.559+373C>T (AVPR2)
XM_006724828.2:c.37C>T (AVPR2)	XP_006724891.1:p.His13Tyr
NM_000054.5:c.37C>T (AVPR2)	NP_000045.1:p.His13Tyr
NM_001146151.2:c.37C>T (AVPR2)	NP_001139623.1:p.His13Tyr
XM_006724828.3:c.37C>T (AVPR2)	XP_006724891.1:p.His13Tyr
NM_000054.6:c.37C>T (AVPR2)	NP_000045.1:p.His13Tyr
NM_001146151.3:c.37C>T (AVPR2)	NP_001139623.1:p.His13Tyr
NR_027419.2:n.465+373C>T (AVPR2)
NM_000054.7:c.37C>T (AVPR2) MANE Select	NP_000045.1:p.His13Tyr