Canonical Allele Identifier: CA2173753267

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711369C= , CM000677.2:g.44711369C= GRCh38
NC_000015.9:g.45003567C= , CM000677.1:g.45003567C= GRCh37
NC_000015.8:g.42790859C= NCBI36
NG_012920.1:g.4883C=
NG_012920.2:g.4893C=

Transcript Alleles

HGVS Amino-acid change
ENST00000695792.1:n.12C= (B2M)
XM_011521338.1:c.-603G= (PATL2) XP_011519640.1:n.-603G=
XM_011521339.1:c.-484G= (PATL2) XP_011519641.1:n.-484G=
XM_011521340.1:c.-425G= (PATL2) XP_011519642.1:n.-425G=
XM_011521343.1:c.-687G= (PATL2) XP_011519645.1:n.-687G=
XM_011521345.1:c.-658G= (PATL2) XP_011519647.1:n.-658G=
XM_011521338.3:c.-603G= (PATL2) XP_011519640.1:n.-603G=
XM_011521339.3:c.-484G= (PATL2) XP_011519641.1:n.-484G=
XM_011521340.3:c.-425G= (PATL2) XP_011519642.1:n.-425G=
XM_011521343.3:c.-687G= (PATL2) XP_011519645.1:n.-687G=
XM_011521345.3:c.-658G= (PATL2) XP_011519647.1:n.-658G=
NM_001387260.1:c.-113G= (PATL2) NP_001374189.1:n.-113G=