Canonical Allele Identifier: CA2721870574

Gene: MBL2

Linked Data

• dbSNP Id: rs2132695150

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771954_52771955insAA , CM000672.2:g.52771954_52771955insAA	GRCh38
NC_000010.10:g.54531714_54531715insAA , CM000672.1:g.54531714_54531715insAA	GRCh37
NC_000010.9:g.54201720_54201721insAA	NCBI36
NG_008196.1:g.4747_4748insTT , LRG_154:g.4747_4748insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.-9-310_-9-309insTT MANE Select	ENSP00000502789.1:n.-9-310_-9-309insTT
ENST00000675947.1:c.-24-295_-24-294insTT	ENSP00000502615.1:n.-24-295_-24-294insTT
XM_006717861.2:c.-24-295_-24-294insTT	XP_006717924.1:n.-24-295_-24-294insTT
XM_011539816.1:c.-9-310_-9-309insTT	XP_011538118.1:n.-9-310_-9-309insTT
XM_006717861.4:c.-24-295_-24-294insTT	XP_006717924.1:n.-24-295_-24-294insTT
XM_011539816.3:c.-9-310_-9-309insTT	XP_011538118.1:n.-9-310_-9-309insTT
NM_001378373.1:c.-9-310_-9-309insTT MANE Select	NP_001365302.1:n.-9-310_-9-309insTT
NM_001378374.1:c.-24-295_-24-294insTT	NP_001365303.1:n.-24-295_-24-294insTT