Canonical Allele Identifier: CA5504417

Gene: MBL2

Linked Data

• ClinVar Variation Id: 695181
• ClinVar RCV Id: RCV000860532
• dbSNP Id: rs192251459
• ExAC: 10:54531204 C / T
• gnomAD v2: 10-54531204-C-T
• gnomAD v3: 10-52771444-C-T
• gnomAD v4: 10-52771444-C-T
• MyVariant Identifiers: chr10:g.54531204C>T (hg19) ; chr10:g.52771444C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771444C>T , CM000672.2:g.52771444C>T	GRCh38
NC_000010.10:g.54531204C>T , CM000672.1:g.54531204C>T	GRCh37
NC_000010.9:g.54201210C>T	NCBI36
NG_008196.1:g.5257G>A , LRG_154:g.5257G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.187+5G>A MANE Select	ENSP00000502789.1:n.187+5G>A
ENST00000675947.1:c.187+5G>A	ENSP00000502615.1:n.187+5G>A
ENST00000373968.3:c.187+5G>A	ENSP00000363079.3:n.187+5G>A
NM_000242.2:c.187+5G>A , LRG_154t1:c.187+5G>A	NP_000233.1:n.187+5G>A
XM_006717861.2:c.187+5G>A	XP_006717924.1:n.187+5G>A
XM_011539816.1:c.187+5G>A	XP_011538118.1:n.187+5G>A
XM_006717861.4:c.187+5G>A	XP_006717924.1:n.187+5G>A
XM_011539816.3:c.187+5G>A	XP_011538118.1:n.187+5G>A
NM_000242.3:c.187+5G>A	NP_000233.1:n.187+5G>A
NM_001378373.1:c.187+5G>A MANE Select	NP_001365302.1:n.187+5G>A
NM_001378374.1:c.187+5G>A	NP_001365303.1:n.187+5G>A