Canonical Allele Identifier: CA666361332

Gene: MBL2

Linked Data

• dbSNP Id: rs566001093
• gnomAD v3: 10-52772344-G-A
• gnomAD v4: 10-52772344-G-A
• MyVariant Identifiers: chr10:g.54532104G>A (hg19) ; chr10:g.52772344G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52772344G>A , CM000672.2:g.52772344G>A	GRCh38
NC_000010.10:g.54532104G>A , CM000672.1:g.54532104G>A	GRCh37
NC_000010.9:g.54202110G>A	NCBI36
NG_008196.1:g.4357C>T , LRG_154:g.4357C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.-10+393C>T MANE Select	ENSP00000502789.1:n.-10+393C>T
ENST00000675947.1:c.-25+393C>T	ENSP00000502615.1:n.-25+393C>T
XM_006717861.2:c.-25+393C>T	XP_006717924.1:n.-25+393C>T
XM_011539816.1:c.-10+393C>T	XP_011538118.1:n.-10+393C>T
XM_006717861.4:c.-25+393C>T	XP_006717924.1:n.-25+393C>T
XM_011539816.3:c.-10+393C>T	XP_011538118.1:n.-10+393C>T
NM_001378373.1:c.-10+393C>T MANE Select	NP_001365302.1:n.-10+393C>T
NM_001378374.1:c.-25+393C>T	NP_001365303.1:n.-25+393C>T