Canonical Allele Identifier: CA928437821

Gene: MBL2

Linked Data

• dbSNP Id: rs1840404293
• gnomAD v3: 10-52772139-C-CTCTTT
• gnomAD v4: 10-52772139-C-CTCTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52772139_52772140insTCTTT , CM000672.2:g.52772139_52772140insTCTTT	GRCh38
NC_000010.10:g.54531899_54531900insTCTTT , CM000672.1:g.54531899_54531900insTCTTT	GRCh37
NC_000010.9:g.54201905_54201906insTCTTT	NCBI36
NG_008196.1:g.4561_4562insAAAGA , LRG_154:g.4561_4562insAAAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.-9-496_-9-495insAAAGA MANE Select	ENSP00000502789.1:n.-9-496_-9-495insAAAGA...
ENST00000675947.1:c.-24-481_-24-480insAAAGA	ENSP00000502615.1:n.-24-481_-24-480insAAA...
XM_006717861.2:c.-24-481_-24-480insAAAGA	XP_006717924.1:n.-24-481_-24-480insAAAGA
XM_011539816.1:c.-9-496_-9-495insAAAGA	XP_011538118.1:n.-9-496_-9-495insAAAGA
XM_006717861.4:c.-24-481_-24-480insAAAGA	XP_006717924.1:n.-24-481_-24-480insAAAGA
XM_011539816.3:c.-9-496_-9-495insAAAGA	XP_011538118.1:n.-9-496_-9-495insAAAGA
NM_001378373.1:c.-9-496_-9-495insAAAGA MANE Select	NP_001365302.1:n.-9-496_-9-495insAAAGA
NM_001378374.1:c.-24-481_-24-480insAAAGA	NP_001365303.1:n.-24-481_-24-480insAAAGA