Canonical Allele Identifier: CA5504413

Gene: MBL2

Linked Data

• dbSNP Id: rs780834053
• ExAC: 10:54531182 G / A
• gnomAD v2: 10-54531182-G-A
• gnomAD v4: 10-52771422-G-A
• MyVariant Identifiers: chr10:g.54531182G>A (hg19) ; chr10:g.52771422G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771422G>A , CM000672.2:g.52771422G>A	GRCh38
NC_000010.10:g.54531182G>A , CM000672.1:g.54531182G>A	GRCh37
NC_000010.9:g.54201188G>A	NCBI36
NG_008196.1:g.5279C>T , LRG_154:g.5279C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.187+27C>T MANE Select	ENSP00000502789.1:n.187+27C>T
ENST00000675947.1:c.187+27C>T	ENSP00000502615.1:n.187+27C>T
ENST00000373968.3:c.187+27C>T	ENSP00000363079.3:n.187+27C>T
NM_000242.2:c.187+27C>T , LRG_154t1:c.187+27C>T	NP_000233.1:n.187+27C>T
XM_006717861.2:c.187+27C>T	XP_006717924.1:n.187+27C>T
XM_011539816.1:c.187+27C>T	XP_011538118.1:n.187+27C>T
XM_006717861.4:c.187+27C>T	XP_006717924.1:n.187+27C>T
XM_011539816.3:c.187+27C>T	XP_011538118.1:n.187+27C>T
NM_000242.3:c.187+27C>T	NP_000233.1:n.187+27C>T
NM_001378373.1:c.187+27C>T MANE Select	NP_001365302.1:n.187+27C>T
NM_001378374.1:c.187+27C>T	NP_001365303.1:n.187+27C>T