Canonical Allele Identifier: CA2628214323

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711361A>G , CM000677.2:g.44711361A>G GRCh38
NC_000015.9:g.45003559A>G , CM000677.1:g.45003559A>G GRCh37
NC_000015.8:g.42790851A>G NCBI36
NG_012920.1:g.4875A>G
NG_012920.2:g.4885A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695792.1:n.4A>G (B2M)
XM_011521338.1:c.-595T>C (PATL2) XP_011519640.1:n.-595T>C
XM_011521339.1:c.-476T>C (PATL2) XP_011519641.1:n.-476T>C
XM_011521340.1:c.-417T>C (PATL2) XP_011519642.1:n.-417T>C
XM_011521343.1:c.-679T>C (PATL2) XP_011519645.1:n.-679T>C
XM_011521345.1:c.-650T>C (PATL2) XP_011519647.1:n.-650T>C
XM_011521338.3:c.-595T>C (PATL2) XP_011519640.1:n.-595T>C
XM_011521339.3:c.-476T>C (PATL2) XP_011519641.1:n.-476T>C
XM_011521340.3:c.-417T>C (PATL2) XP_011519642.1:n.-417T>C
XM_011521343.3:c.-679T>C (PATL2) XP_011519645.1:n.-679T>C
XM_011521345.3:c.-650T>C (PATL2) XP_011519647.1:n.-650T>C
NM_001387260.1:c.-105T>C (PATL2) NP_001374189.1:n.-105T>C