Canonical Allele Identifier: CA2628214322

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711360C>A , CM000677.2:g.44711360C>A GRCh38
NC_000015.9:g.45003558C>A , CM000677.1:g.45003558C>A GRCh37
NC_000015.8:g.42790850C>A NCBI36
NG_012920.1:g.4874C>A
NG_012920.2:g.4884C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000695792.1:n.3C>A (B2M)
XM_011521338.1:c.-594G>T (PATL2) XP_011519640.1:n.-594G>T
XM_011521339.1:c.-475G>T (PATL2) XP_011519641.1:n.-475G>T
XM_011521340.1:c.-416G>T (PATL2) XP_011519642.1:n.-416G>T
XM_011521343.1:c.-678G>T (PATL2) XP_011519645.1:n.-678G>T
XM_011521345.1:c.-649G>T (PATL2) XP_011519647.1:n.-649G>T
XM_011521338.3:c.-594G>T (PATL2) XP_011519640.1:n.-594G>T
XM_011521339.3:c.-475G>T (PATL2) XP_011519641.1:n.-475G>T
XM_011521340.3:c.-416G>T (PATL2) XP_011519642.1:n.-416G>T
XM_011521343.3:c.-678G>T (PATL2) XP_011519645.1:n.-678G>T
XM_011521345.3:c.-649G>T (PATL2) XP_011519647.1:n.-649G>T
NM_001387260.1:c.-104G>T (PATL2) NP_001374189.1:n.-104G>T