Canonical Allele Identifier: CA2628214338

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711370T>C , CM000677.2:g.44711370T>C GRCh38
NC_000015.9:g.45003568T>C , CM000677.1:g.45003568T>C GRCh37
NC_000015.8:g.42790860T>C NCBI36
NG_012920.1:g.4884T>C
NG_012920.2:g.4894T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695792.1:n.13T>C (B2M)
XM_011521338.1:c.-604A>G (PATL2) XP_011519640.1:n.-604A>G
XM_011521339.1:c.-485A>G (PATL2) XP_011519641.1:n.-485A>G
XM_011521340.1:c.-426A>G (PATL2) XP_011519642.1:n.-426A>G
XM_011521343.1:c.-688A>G (PATL2) XP_011519645.1:n.-688A>G
XM_011521345.1:c.-659A>G (PATL2) XP_011519647.1:n.-659A>G
XM_011521338.3:c.-604A>G (PATL2) XP_011519640.1:n.-604A>G
XM_011521339.3:c.-485A>G (PATL2) XP_011519641.1:n.-485A>G
XM_011521340.3:c.-426A>G (PATL2) XP_011519642.1:n.-426A>G
XM_011521343.3:c.-688A>G (PATL2) XP_011519645.1:n.-688A>G
XM_011521345.3:c.-659A>G (PATL2) XP_011519647.1:n.-659A>G
NM_001387260.1:c.-114A>G (PATL2) NP_001374189.1:n.-114A>G