Canonical Allele Identifier: CA2466520654
Community Standard Title: NM_000054.7(AVPR2):c.602G= (p.Gly201=)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153906108G= , CM000685.2:g.153906108G= GRCh38
NC_000023.10:g.153171562G= , CM000685.1:g.153171562G= GRCh37
NC_000023.9:g.152824756G= NCBI36
NG_008687.1:g.6135G=
NG_009645.3:g.8116C=
NG_013220.1:g.25153C=

Transcript Alleles

HGVS Amino-acid Change
NM_000054.7:c.602G= (AVPR2) MANE Select NP_000045.1:p.Gly201=
ENST00000646375.2:c.602G= (AVPR2) MANE Select ENSP00000496396.1:p.Gly201=
NM_000054.4:c.602G= (AVPR2) NP_000045.1:p.Gly201=
NM_000054.5:c.602G= (AVPR2) NP_000045.1:p.Gly201=
NM_000054.6:c.602G= (AVPR2) NP_000045.1:p.Gly201=
NM_001146151.1:c.602G= (AVPR2) NP_001139623.1:p.Gly201=
NM_001146151.2:c.602G= (AVPR2) NP_001139623.1:p.Gly201=
NM_001146151.3:c.602G= (AVPR2) NP_001139623.1:p.Gly201=
NR_027419.1:n.649G= (AVPR2)
NR_027419.2:n.555G= (AVPR2)
ENST00000337474.5:c.602G= (AVPR2) ENSP00000338072.5:p.Gly201=
ENST00000358927.6:c.602G= (AVPR2) ENSP00000351805.2:p.Gly201=
ENST00000370049.1:c.602G= (AVPR2) ENSP00000359066.1:p.Gly201=
ENST00000430697.1:c.602G= (AVPR2) ENSP00000393513.1:p.Gly201=
ENST00000434679.5:c.115G= (AVPR2) ENSP00000393397.1:p.Ala39=
ENST00000434679.6:c.115G= (AVPR2) ENSP00000393397.1:p.Ala39=
ENST00000464967.5:n.154+2962C= (L1CAM)
ENST00000642393.1:c.97+2962C=
ENST00000646191.1:c.97+2962C=
ENST00000646375.1:c.602G= (AVPR2) ENSP00000496396.1:p.Gly201=
XM_006724828.2:c.602G= (AVPR2) XP_006724891.1:p.Gly201=
XM_006724828.3:c.602G= (AVPR2) XP_006724891.1:p.Gly201=