Canonical Allele Identifier: CA1910256937

Gene: MBL2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52766098_52766099delinsAT , CM000672.2:g.52766098_52766099delinsAT	GRCh38
NC_000010.10:g.54525858_54525859delinsAT , CM000672.1:g.54525858_54525859delinsAT	GRCh37
NC_000010.9:g.54195864_54195865delinsAT	NCBI36
NG_008196.1:g.10602_10603delinsAT , LRG_154:g.10602_10603delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.*2038_*2039delinsAT MANE Select	ENSP00000502789.1:n.*2038_*2039delinsAT
ENST00000675947.1:c.*2038_*2039delinsAT	ENSP00000502615.1:n.*2038_*2039delinsAT
ENST00000373968.3:c.*2038_*2039delinsAT	ENSP00000363079.3:n.*2038_*2039delinsAT
NM_000242.2:c.*2038_*2039delinsAT , LRG_154t1:c.*2038_*2039delinsAT	NP_000233.1:n.*2038_*2039delinsAT
XM_006717861.2:c.*2038_*2039delinsAT	XP_006717924.1:n.*2038_*2039delinsAT
XM_011539816.1:c.*2038_*2039delinsAT	XP_011538118.1:n.*2038_*2039delinsAT
XM_006717861.4:c.*2038_*2039delinsAT	XP_006717924.1:n.*2038_*2039delinsAT
XM_011539816.3:c.*2038_*2039delinsAT	XP_011538118.1:n.*2038_*2039delinsAT
NM_000242.3:c.*2038_*2039delinsAT	NP_000233.1:n.*2038_*2039delinsAT
NM_001378373.1:c.*2038_*2039delinsAT MANE Select	NP_001365302.1:n.*2038_*2039delinsAT
NM_001378374.1:c.*2038_*2039delinsAT	NP_001365303.1:n.*2038_*2039delinsAT