Canonical Allele Identifier: CA2628214332

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711367C>T , CM000677.2:g.44711367C>T GRCh38
NC_000015.9:g.45003565C>T , CM000677.1:g.45003565C>T GRCh37
NC_000015.8:g.42790857C>T NCBI36
NG_012920.1:g.4881C>T
NG_012920.2:g.4891C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695792.1:n.10C>T (B2M)
XM_011521338.1:c.-601G>A (PATL2) XP_011519640.1:n.-601G>A
XM_011521339.1:c.-482G>A (PATL2) XP_011519641.1:n.-482G>A
XM_011521340.1:c.-423G>A (PATL2) XP_011519642.1:n.-423G>A
XM_011521343.1:c.-685G>A (PATL2) XP_011519645.1:n.-685G>A
XM_011521345.1:c.-656G>A (PATL2) XP_011519647.1:n.-656G>A
XM_011521338.3:c.-601G>A (PATL2) XP_011519640.1:n.-601G>A
XM_011521339.3:c.-482G>A (PATL2) XP_011519641.1:n.-482G>A
XM_011521340.3:c.-423G>A (PATL2) XP_011519642.1:n.-423G>A
XM_011521343.3:c.-685G>A (PATL2) XP_011519645.1:n.-685G>A
XM_011521345.3:c.-656G>A (PATL2) XP_011519647.1:n.-656G>A
NM_001387260.1:c.-111G>A (PATL2) NP_001374189.1:n.-111G>A