Canonical Allele Identifier: CA376540261

Gene: MBL2

Linked Data

• dbSNP Id: rs1840394142
• gnomAD v4: 10-52771595-A-T
• MyVariant Identifiers: chr10:g.54531355A>T (hg19) ; chr10:g.52771595A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771595A>T , CM000672.2:g.52771595A>T	GRCh38
NC_000010.10:g.54531355A>T , CM000672.1:g.54531355A>T	GRCh37
NC_000010.9:g.54201361A>T	NCBI36
NG_008196.1:g.5106T>A , LRG_154:g.5106T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.41T>A MANE Select	ENSP00000502789.1:p.Met14Lys
ENST00000675947.1:c.41T>A	ENSP00000502615.1:p.Met14Lys
ENST00000373968.3:c.41T>A	ENSP00000363079.3:p.Met14Lys
NM_000242.2:c.41T>A , LRG_154t1:c.41T>A	NP_000233.1:p.Met14Lys
XM_006717861.2:c.41T>A	XP_006717924.1:p.Met14Lys
XM_011539816.1:c.41T>A	XP_011538118.1:p.Met14Lys
XM_006717861.4:c.41T>A	XP_006717924.1:p.Met14Lys
XM_011539816.3:c.41T>A	XP_011538118.1:p.Met14Lys
NM_000242.3:c.41T>A	NP_000233.1:p.Met14Lys
NM_001378373.1:c.41T>A MANE Select	NP_001365302.1:p.Met14Lys
NM_001378374.1:c.41T>A	NP_001365303.1:p.Met14Lys