Canonical Allele Identifier: CA2628214360
Gene: B2M HGNC NCBI
PATL2 HGNC NCBI

Linked Data

gnomAD v4: 15-44711394-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711394A>C , CM000677.2:g.44711394A>C GRCh38
NC_000015.9:g.45003592A>C , CM000677.1:g.45003592A>C GRCh37
NC_000015.8:g.42790884A>C NCBI36
NG_012920.1:g.4908A>C
NG_012920.2:g.4918A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695792.1:n.37A>C (B2M)
XM_011521338.3:c.-628T>G (PATL2) XP_011519640.1:n.-628T>G
XM_011521339.3:c.-509T>G (PATL2) XP_011519641.1:n.-509T>G
XM_011521340.3:c.-450T>G (PATL2) XP_011519642.1:n.-450T>G
XM_011521343.3:c.-712T>G (PATL2) XP_011519645.1:n.-712T>G
XM_011521345.3:c.-683T>G (PATL2) XP_011519647.1:n.-683T>G
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