Canonical Allele Identifier: CA1910259502
Gene: MBL2 HGNC NCBI

Linked Data

dbSNP Id: rs1589872417
gnomAD v4: 10-52771841-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52771841T>C , CM000672.2:g.52771841T>C GRCh38
NC_000010.10:g.54531601T>C , CM000672.1:g.54531601T>C GRCh37
NC_000010.9:g.54201607T>C NCBI36
NG_008196.1:g.4860A>G , LRG_154:g.4860A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000674931.1:c.-9-197A>G MANE Select ENSP00000502789.1:n.-9-197A>G
ENST00000675947.1:c.-24-182A>G ENSP00000502615.1:n.-24-182A>G
XM_006717861.2:c.-24-182A>G XP_006717924.1:n.-24-182A>G
XM_011539816.1:c.-9-197A>G XP_011538118.1:n.-9-197A>G
XM_006717861.4:c.-24-182A>G XP_006717924.1:n.-24-182A>G
XM_011539816.3:c.-9-197A>G XP_011538118.1:n.-9-197A>G
NM_001378373.1:c.-9-197A>G MANE Select NP_001365302.1:n.-9-197A>G
NM_001378374.1:c.-24-182A>G NP_001365303.1:n.-24-182A>G
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