Canonical Allele Identifier: CA2466520945

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153906857C= , CM000685.2:g.153906857C= GRCh38
NC_000023.10:g.153172311C= , CM000685.1:g.153172311C= GRCh37
NC_000023.9:g.152825505C= NCBI36
NG_008687.1:g.6884C=
NG_009645.3:g.7367G=
NG_013220.1:g.24404G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000646375.2:c.*129C= (AVPR2) MANE Select ENSP00000496396.1:n.*129C=
ENST00000434679.6:c.*611C= (AVPR2) ENSP00000393397.1:n.*611C=
ENST00000642393.1:c.97+2213G=
ENST00000646191.1:c.97+2213G=
ENST00000646375.1:c.*129C= (AVPR2) ENSP00000496396.1:n.*129C=
ENST00000337474.5:c.*129C= (AVPR2) ENSP00000338072.5:n.*129C=
ENST00000358927.6:c.*129C= (AVPR2) ENSP00000351805.2:n.*129C=
ENST00000434679.5:c.*611C= (AVPR2) ENSP00000393397.1:n.*611C=
ENST00000464967.5:n.154+2213G= (L1CAM)
NM_000054.4:c.*129C= (AVPR2) NP_000045.1:n.*129C=
NM_001146151.1:c.*421C= (AVPR2) NP_001139623.1:n.*421C=
NR_027419.1:n.1292C= (AVPR2)
XM_006724828.2:c.*129C= (AVPR2) XP_006724891.1:n.*129C=
NM_000054.5:c.*129C= (AVPR2) NP_000045.1:n.*129C=
NM_001146151.2:c.*421C= (AVPR2) NP_001139623.1:n.*421C=
XM_006724828.3:c.*129C= (AVPR2) XP_006724891.1:n.*129C=
NM_000054.6:c.*129C= (AVPR2) NP_000045.1:n.*129C=
NM_001146151.3:c.*421C= (AVPR2) NP_001139623.1:n.*421C=
NR_027419.2:n.1198C= (AVPR2)
NM_000054.7:c.*129C= (AVPR2) MANE Select NP_000045.1:n.*129C=