Canonical Allele Identifier: CA2628214340

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711372A>C , CM000677.2:g.44711372A>C GRCh38
NC_000015.9:g.45003570A>C , CM000677.1:g.45003570A>C GRCh37
NC_000015.8:g.42790862A>C NCBI36
NG_012920.1:g.4886A>C
NG_012920.2:g.4896A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695792.1:n.15A>C (B2M)
XM_011521338.1:c.-606T>G (PATL2) XP_011519640.1:n.-606T>G
XM_011521339.1:c.-487T>G (PATL2) XP_011519641.1:n.-487T>G
XM_011521340.1:c.-428T>G (PATL2) XP_011519642.1:n.-428T>G
XM_011521343.1:c.-690T>G (PATL2) XP_011519645.1:n.-690T>G
XM_011521345.1:c.-661T>G (PATL2) XP_011519647.1:n.-661T>G
XM_011521338.3:c.-606T>G (PATL2) XP_011519640.1:n.-606T>G
XM_011521339.3:c.-487T>G (PATL2) XP_011519641.1:n.-487T>G
XM_011521340.3:c.-428T>G (PATL2) XP_011519642.1:n.-428T>G
XM_011521343.3:c.-690T>G (PATL2) XP_011519645.1:n.-690T>G
XM_011521345.3:c.-661T>G (PATL2) XP_011519647.1:n.-661T>G
NM_001387260.1:c.-116T>G (PATL2) NP_001374189.1:n.-116T>G