Canonical Allele Identifier: CA10555134

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs782422176
• ExAC: X:153172142 C / T
• gnomAD v2: X-153172142-C-T
• gnomAD v3: X-153906688-C-T
• gnomAD v4: X-153906688-C-T
• MyVariant Identifiers: chrX:g.153172142C>T (hg19) ; chrX:g.153906688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906688C>T , CM000685.2:g.153906688C>T	GRCh38
NC_000023.10:g.153172142C>T , CM000685.1:g.153172142C>T	GRCh37
NC_000023.9:g.152825336C>T	NCBI36
NG_008687.1:g.6715C>T
NG_009645.3:g.7536G>A
NG_013220.1:g.24573G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.1076C>T (AVPR2) MANE Select	ENSP00000496396.1:p.Thr359Ile
ENST00000434679.6:c.*442C>T (AVPR2)	ENSP00000393397.1:n.*442C>T
ENST00000642393.1:c.97+2382G>A
ENST00000646191.1:c.97+2382G>A
ENST00000646375.1:c.1076C>T (AVPR2)	ENSP00000496396.1:p.Thr359Ile
ENST00000337474.5:c.1076C>T (AVPR2)	ENSP00000338072.5:p.Thr359Ile
ENST00000358927.6:c.1076C>T (AVPR2)	ENSP00000351805.2:p.Thr359Ile
ENST00000370049.1:c.*252C>T (AVPR2)	ENSP00000359066.1:n.*252C>T
ENST00000430697.1:c.988C>T (AVPR2)	ENSP00000393513.1:p.Pro330Ser
ENST00000434679.5:c.*442C>T (AVPR2)	ENSP00000393397.1:n.*442C>T
ENST00000464967.5:n.154+2382G>A (L1CAM)
NM_000054.4:c.1076C>T (AVPR2)	NP_000045.1:p.Thr359Ile
NM_001146151.1:c.*252C>T (AVPR2)	NP_001139623.1:n.*252C>T
NR_027419.1:n.1123C>T (AVPR2)
XM_006724828.2:c.1076C>T (AVPR2)	XP_006724891.1:p.Thr359Ile
NM_000054.5:c.1076C>T (AVPR2)	NP_000045.1:p.Thr359Ile
NM_001146151.2:c.*252C>T (AVPR2)	NP_001139623.1:n.*252C>T
XM_006724828.3:c.1076C>T (AVPR2)	XP_006724891.1:p.Thr359Ile
NM_000054.6:c.1076C>T (AVPR2)	NP_000045.1:p.Thr359Ile
NM_001146151.3:c.*252C>T (AVPR2)	NP_001139623.1:n.*252C>T
NR_027419.2:n.1029C>T (AVPR2)
NM_000054.7:c.1076C>T (AVPR2) MANE Select	NP_000045.1:p.Thr359Ile