Canonical Allele Identifier: CA2628214329

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711365G>A , CM000677.2:g.44711365G>A GRCh38
NC_000015.9:g.45003563G>A , CM000677.1:g.45003563G>A GRCh37
NC_000015.8:g.42790855G>A NCBI36
NG_012920.1:g.4879G>A
NG_012920.2:g.4889G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695792.1:n.8G>A (B2M)
XM_011521338.1:c.-599C>T (PATL2) XP_011519640.1:n.-599C>T
XM_011521339.1:c.-480C>T (PATL2) XP_011519641.1:n.-480C>T
XM_011521340.1:c.-421C>T (PATL2) XP_011519642.1:n.-421C>T
XM_011521343.1:c.-683C>T (PATL2) XP_011519645.1:n.-683C>T
XM_011521345.1:c.-654C>T (PATL2) XP_011519647.1:n.-654C>T
XM_011521338.3:c.-599C>T (PATL2) XP_011519640.1:n.-599C>T
XM_011521339.3:c.-480C>T (PATL2) XP_011519641.1:n.-480C>T
XM_011521340.3:c.-421C>T (PATL2) XP_011519642.1:n.-421C>T
XM_011521343.3:c.-683C>T (PATL2) XP_011519645.1:n.-683C>T
XM_011521345.3:c.-654C>T (PATL2) XP_011519647.1:n.-654C>T
NM_001387260.1:c.-109C>T (PATL2) NP_001374189.1:n.-109C>T