Canonical Allele Identifier: CA207456811

Gene: MBL2

Linked Data

• ClinVar Variation Id: 878130
• ClinVar RCV Id: RCV001104481
• dbSNP Id: rs747317698
• gnomAD v2: 10-54525688-A-G
• gnomAD v3: 10-52765928-A-G
• gnomAD v4: 10-52765928-A-G
• MyVariant Identifiers: chr10:g.54525688A>G (hg19) ; chr10:g.52765928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52765928A>G , CM000672.2:g.52765928A>G	GRCh38
NC_000010.10:g.54525688A>G , CM000672.1:g.54525688A>G	GRCh37
NC_000010.9:g.54195694A>G	NCBI36
NG_008196.1:g.10773T>C , LRG_154:g.10773T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.*2209T>C MANE Select	ENSP00000502789.1:n.*2209T>C
ENST00000675947.1:c.*2209T>C	ENSP00000502615.1:n.*2209T>C
ENST00000373968.3:c.*2209T>C	ENSP00000363079.3:n.*2209T>C
NM_000242.2:c.*2209T>C , LRG_154t1:c.*2209T>C	NP_000233.1:n.*2209T>C
XM_006717861.2:c.*2209T>C	XP_006717924.1:n.*2209T>C
XM_011539816.1:c.*2209T>C	XP_011538118.1:n.*2209T>C
XM_006717861.4:c.*2209T>C	XP_006717924.1:n.*2209T>C
XM_011539816.3:c.*2209T>C	XP_011538118.1:n.*2209T>C
NM_000242.3:c.*2209T>C	NP_000233.1:n.*2209T>C
NM_001378373.1:c.*2209T>C MANE Select	NP_001365302.1:n.*2209T>C
NM_001378374.1:c.*2209T>C	NP_001365303.1:n.*2209T>C