Canonical Allele Identifier: CA207456818

Gene: MBL2

Linked Data

• dbSNP Id: rs771499080
• MyVariant Identifiers: chr10:g.54525728_54525730del (hg19) ; chr10:g.52765968_52765970del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52765972_52765974del , CM000672.2:g.52765972_52765974del	GRCh38
NC_000010.10:g.54525732_54525734del , CM000672.1:g.54525732_54525734del	GRCh37
NC_000010.9:g.54195738_54195740del	NCBI36
NG_008196.1:g.10731_10733del , LRG_154:g.10731_10733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.*2167_*2169del MANE Select	ENSP00000502789.1:n.*2167_*2169del
ENST00000675947.1:c.*2167_*2169del	ENSP00000502615.1:n.*2167_*2169del
ENST00000373968.3:c.*2167_*2169del	ENSP00000363079.3:n.*2167_*2169del
NM_000242.2:c.*2167_*2169del , LRG_154t1:c.*2167_*2169del	NP_000233.1:n.*2167_*2169del
XM_006717861.2:c.*2167_*2169del	XP_006717924.1:n.*2167_*2169del
XM_011539816.1:c.*2167_*2169del	XP_011538118.1:n.*2167_*2169del
XM_006717861.4:c.*2167_*2169del	XP_006717924.1:n.*2167_*2169del
XM_011539816.3:c.*2167_*2169del	XP_011538118.1:n.*2167_*2169del
NM_000242.3:c.*2167_*2169del	NP_000233.1:n.*2167_*2169del
NM_001378373.1:c.*2167_*2169del MANE Select	NP_001365302.1:n.*2167_*2169del
NM_001378374.1:c.*2167_*2169del	NP_001365303.1:n.*2167_*2169del