Canonical Allele Identifier: CA666360925

Gene: MBL2

Linked Data

• dbSNP Id: rs1338704727
• gnomAD v3: 10-52771682-T-G
• gnomAD v4: 10-52771682-T-G
• MyVariant Identifiers: chr10:g.54531442T>G (hg19) ; chr10:g.52771682T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771682T>G , CM000672.2:g.52771682T>G	GRCh38
NC_000010.10:g.54531442T>G , CM000672.1:g.54531442T>G	GRCh37
NC_000010.9:g.54201448T>G	NCBI36
NG_008196.1:g.5019A>C , LRG_154:g.5019A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.-9-38A>C MANE Select	ENSP00000502789.1:n.-9-38A>C
ENST00000675947.1:c.-24-23A>C	ENSP00000502615.1:n.-24-23A>C
ENST00000373968.3:c.-47A>C	ENSP00000363079.3:n.-47A>C
NM_000242.2:c.-47A>C , LRG_154t1:c.-47A>C	NP_000233.1:n.-47A>C
XM_006717861.2:c.-24-23A>C	XP_006717924.1:n.-24-23A>C
XM_011539816.1:c.-9-38A>C	XP_011538118.1:n.-9-38A>C
XM_006717861.4:c.-24-23A>C	XP_006717924.1:n.-24-23A>C
XM_011539816.3:c.-9-38A>C	XP_011538118.1:n.-9-38A>C
NM_001378373.1:c.-9-38A>C MANE Select	NP_001365302.1:n.-9-38A>C
NM_001378374.1:c.-24-23A>C	NP_001365303.1:n.-24-23A>C