Canonical Allele Identifier: CA593572891

Gene: MBL2

Linked Data

• dbSNP Id: rs768875117
• gnomAD v2: 10-54531420-C-G
• gnomAD v3: 10-52771660-C-G
• gnomAD v4: 10-52771660-C-G
• MyVariant Identifiers: chr10:g.54531420C>G (hg19) ; chr10:g.52771660C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771660C>G , CM000672.2:g.52771660C>G	GRCh38
NC_000010.10:g.54531420C>G , CM000672.1:g.54531420C>G	GRCh37
NC_000010.9:g.54201426C>G	NCBI36
NG_008196.1:g.5041G>C , LRG_154:g.5041G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.-9-16G>C MANE Select	ENSP00000502789.1:n.-9-16G>C
ENST00000675947.1:c.-24-1G>C	ENSP00000502615.1:n.-24-1G>C
ENST00000373968.3:c.-25G>C	ENSP00000363079.3:n.-25G>C
NM_000242.2:c.-25G>C , LRG_154t1:c.-25G>C	NP_000233.1:n.-25G>C
XM_006717861.2:c.-24-1G>C	XP_006717924.1:n.-24-1G>C
XM_011539816.1:c.-9-16G>C	XP_011538118.1:n.-9-16G>C
XM_006717861.4:c.-24-1G>C	XP_006717924.1:n.-24-1G>C
XM_011539816.3:c.-9-16G>C	XP_011538118.1:n.-9-16G>C
NM_001378373.1:c.-9-16G>C MANE Select	NP_001365302.1:n.-9-16G>C
NM_001378374.1:c.-24-1G>C	NP_001365303.1:n.-24-1G>C