Canonical Allele Identifier: CA10635901

Gene: MBL2

Linked Data

• ClinVar Variation Id: 300112
• ClinVar RCV Id: RCV000385044
• dbSNP Id: rs886047044
• gnomAD v4: 10-52766071-C-A
• MyVariant Identifiers: chr10:g.54525831C>A (hg19) ; chr10:g.52766071C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52766071C>A , CM000672.2:g.52766071C>A	GRCh38
NC_000010.10:g.54525831C>A , CM000672.1:g.54525831C>A	GRCh37
NC_000010.9:g.54195837C>A	NCBI36
NG_008196.1:g.10630G>T , LRG_154:g.10630G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.*2066G>T MANE Select	ENSP00000502789.1:n.*2066G>T
ENST00000675947.1:c.*2066G>T	ENSP00000502615.1:n.*2066G>T
ENST00000373968.3:c.*2066G>T	ENSP00000363079.3:n.*2066G>T
NM_000242.2:c.*2066G>T , LRG_154t1:c.*2066G>T	NP_000233.1:n.*2066G>T
XM_006717861.2:c.*2066G>T	XP_006717924.1:n.*2066G>T
XM_011539816.1:c.*2066G>T	XP_011538118.1:n.*2066G>T
XM_006717861.4:c.*2066G>T	XP_006717924.1:n.*2066G>T
XM_011539816.3:c.*2066G>T	XP_011538118.1:n.*2066G>T
NM_000242.3:c.*2066G>T	NP_000233.1:n.*2066G>T
NM_001378373.1:c.*2066G>T MANE Select	NP_001365302.1:n.*2066G>T
NM_001378374.1:c.*2066G>T	NP_001365303.1:n.*2066G>T