Canonical Allele Identifier: CA666361222

Gene: MBL2

Linked Data

• dbSNP Id: rs1326834394
• MyVariant Identifiers: chr10:g.54531890_54531891insTTTACTCT (hg19) ; chr10:g.52772130_52772131insTTTACTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52772132_52772133insTACTCTTT , CM000672.2:g.52772132_52772133insTACTCTTT	GRCh38
NC_000010.10:g.54531892_54531893insTACTCTTT , CM000672.1:g.54531892_54531893insTACTCTTT	GRCh37
NC_000010.9:g.54201898_54201899insTACTCTTT	NCBI36
NG_008196.1:g.4570_4571insAGAGTAAA , LRG_154:g.4570_4571insAGAGTAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.-9-487_-9-486insAGAGTAAA MANE Select	ENSP00000502789.1:n.-9-487_-9-486insAGAGT...
ENST00000675947.1:c.-24-472_-24-471insAGAGTAAA	ENSP00000502615.1:n.-24-472_-24-471insAGA...
XM_006717861.2:c.-24-472_-24-471insAGAGTAAA	XP_006717924.1:n.-24-472_-24-471insAGAGTA...
XM_011539816.1:c.-9-487_-9-486insAGAGTAAA	XP_011538118.1:n.-9-487_-9-486insAGAGTAAA...
XM_006717861.4:c.-24-472_-24-471insAGAGTAAA	XP_006717924.1:n.-24-472_-24-471insAGAGTA...
XM_011539816.3:c.-9-487_-9-486insAGAGTAAA	XP_011538118.1:n.-9-487_-9-486insAGAGTAAA...
NM_001378373.1:c.-9-487_-9-486insAGAGTAAA MANE Select	NP_001365302.1:n.-9-487_-9-486insAGAGTAAA...
NM_001378374.1:c.-24-472_-24-471insAGAGTAAA	NP_001365303.1:n.-24-472_-24-471insAGAGTA...