Canonical Allele Identifier: CA2628214336

Linked Data

Genomic Alleles

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

Transcript Alleles

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