Canonical Allele Identifier: CA593572906

Gene: MBL2

Linked Data

• dbSNP Id: rs1489510491
• gnomAD v2: 10-54531458-A-C
• gnomAD v3: 10-52771698-A-C
• gnomAD v4: 10-52771698-A-C
• MyVariant Identifiers: chr10:g.54531458A>C (hg19) ; chr10:g.52771698A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771698A>C , CM000672.2:g.52771698A>C	GRCh38
NC_000010.10:g.54531458A>C , CM000672.1:g.54531458A>C	GRCh37
NC_000010.9:g.54201464A>C	NCBI36
NG_008196.1:g.5003T>G , LRG_154:g.5003T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.-9-54T>G MANE Select	ENSP00000502789.1:n.-9-54T>G
ENST00000675947.1:c.-24-39T>G	ENSP00000502615.1:n.-24-39T>G
ENST00000373968.3:c.-63T>G	ENSP00000363079.3:n.-63T>G
NM_000242.2:c.-63T>G , LRG_154t1:c.-63T>G	NP_000233.1:n.-63T>G
XM_006717861.2:c.-24-39T>G	XP_006717924.1:n.-24-39T>G
XM_011539816.1:c.-9-54T>G	XP_011538118.1:n.-9-54T>G
XM_006717861.4:c.-24-39T>G	XP_006717924.1:n.-24-39T>G
XM_011539816.3:c.-9-54T>G	XP_011538118.1:n.-9-54T>G
NM_001378373.1:c.-9-54T>G MANE Select	NP_001365302.1:n.-9-54T>G
NM_001378374.1:c.-24-39T>G	NP_001365303.1:n.-24-39T>G