Canonical Allele Identifier: CA415107510

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153906102C>A , CM000685.2:g.153906102C>A GRCh38
NC_000023.10:g.153171556C>A , CM000685.1:g.153171556C>A GRCh37
NC_000023.9:g.152824750C>A NCBI36
NG_008687.1:g.6129C>A
NG_009645.3:g.8122G>T
NG_013220.1:g.25159G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646375.2:c.596C>A (AVPR2) MANE Select ENSP00000496396.1:p.Pro199His
ENST00000434679.6:c.109C>A (AVPR2) ENSP00000393397.1:p.Pro37Thr
ENST00000642393.1:c.97+2968G>T
ENST00000646191.1:c.97+2968G>T
ENST00000646375.1:c.596C>A (AVPR2) ENSP00000496396.1:p.Pro199His
ENST00000337474.5:c.596C>A (AVPR2) ENSP00000338072.5:p.Pro199His
ENST00000358927.6:c.596C>A (AVPR2) ENSP00000351805.2:p.Pro199His
ENST00000370049.1:c.596C>A (AVPR2) ENSP00000359066.1:p.Pro199His
ENST00000430697.1:c.596C>A (AVPR2) ENSP00000393513.1:p.Pro199His
ENST00000434679.5:c.109C>A (AVPR2) ENSP00000393397.1:p.Pro37Thr
ENST00000464967.5:n.154+2968G>T (L1CAM)
NM_000054.4:c.596C>A (AVPR2) NP_000045.1:p.Pro199His
NM_001146151.1:c.596C>A (AVPR2) NP_001139623.1:p.Pro199His
NR_027419.1:n.643C>A (AVPR2)
XM_006724828.2:c.596C>A (AVPR2) XP_006724891.1:p.Pro199His
NM_000054.5:c.596C>A (AVPR2) NP_000045.1:p.Pro199His
NM_001146151.2:c.596C>A (AVPR2) NP_001139623.1:p.Pro199His
XM_006724828.3:c.596C>A (AVPR2) XP_006724891.1:p.Pro199His
NM_000054.6:c.596C>A (AVPR2) NP_000045.1:p.Pro199His
NM_001146151.3:c.596C>A (AVPR2) NP_001139623.1:p.Pro199His
NR_027419.2:n.549C>A (AVPR2)
NM_000054.7:c.596C>A (AVPR2) MANE Select NP_000045.1:p.Pro199His