Canonical Allele Identifier: CA376540249

Gene: MBL2

Linked Data

• gnomAD v4: 10-52771590-C-A
• MyVariant Identifiers: chr10:g.54531350C>A (hg19) ; chr10:g.52771590C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771590C>A , CM000672.2:g.52771590C>A	GRCh38
NC_000010.10:g.54531350C>A , CM000672.1:g.54531350C>A	GRCh37
NC_000010.9:g.54201356C>A	NCBI36
NG_008196.1:g.5111G>T , LRG_154:g.5111G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.46G>T MANE Select	ENSP00000502789.1:p.Ala16Ser
ENST00000675947.1:c.46G>T	ENSP00000502615.1:p.Ala16Ser
ENST00000373968.3:c.46G>T	ENSP00000363079.3:p.Ala16Ser
NM_000242.2:c.46G>T , LRG_154t1:c.46G>T	NP_000233.1:p.Ala16Ser
XM_006717861.2:c.46G>T	XP_006717924.1:p.Ala16Ser
XM_011539816.1:c.46G>T	XP_011538118.1:p.Ala16Ser
XM_006717861.4:c.46G>T	XP_006717924.1:p.Ala16Ser
XM_011539816.3:c.46G>T	XP_011538118.1:p.Ala16Ser
NM_000242.3:c.46G>T	NP_000233.1:p.Ala16Ser
NM_001378373.1:c.46G>T MANE Select	NP_001365302.1:p.Ala16Ser
NM_001378374.1:c.46G>T	NP_001365303.1:p.Ala16Ser