Canonical Allele Identifier: CA2609210224

Gene: MBL2

Linked Data

• gnomAD v4: 10-52771690-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771690A>G , CM000672.2:g.52771690A>G	GRCh38
NC_000010.10:g.54531450A>G , CM000672.1:g.54531450A>G	GRCh37
NC_000010.9:g.54201456A>G	NCBI36
NG_008196.1:g.5011T>C , LRG_154:g.5011T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.-9-46T>C MANE Select	ENSP00000502789.1:n.-9-46T>C
ENST00000675947.1:c.-24-31T>C	ENSP00000502615.1:n.-24-31T>C
ENST00000373968.3:c.-55T>C	ENSP00000363079.3:n.-55T>C
NM_000242.2:c.-55T>C , LRG_154t1:c.-55T>C	NP_000233.1:n.-55T>C
XM_006717861.2:c.-24-31T>C	XP_006717924.1:n.-24-31T>C
XM_011539816.1:c.-9-46T>C	XP_011538118.1:n.-9-46T>C
XM_006717861.4:c.-24-31T>C	XP_006717924.1:n.-24-31T>C
XM_011539816.3:c.-9-46T>C	XP_011538118.1:n.-9-46T>C
NM_001378373.1:c.-9-46T>C MANE Select	NP_001365302.1:n.-9-46T>C
NM_001378374.1:c.-24-31T>C	NP_001365303.1:n.-24-31T>C