Canonical Allele Identifier: CA207456820

Gene: MBL2

Linked Data

• dbSNP Id: rs1036189799
• gnomAD v2: 10-54525737-G-T
• gnomAD v3: 10-52765977-G-T
• gnomAD v4: 10-52765977-G-T
• MyVariant Identifiers: chr10:g.54525737G>T (hg19) ; chr10:g.52765977G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52765977G>T , CM000672.2:g.52765977G>T	GRCh38
NC_000010.10:g.54525737G>T , CM000672.1:g.54525737G>T	GRCh37
NC_000010.9:g.54195743G>T	NCBI36
NG_008196.1:g.10724C>A , LRG_154:g.10724C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674931.1:c.*2160C>A MANE Select	ENSP00000502789.1:n.*2160C>A
ENST00000675947.1:c.*2160C>A	ENSP00000502615.1:n.*2160C>A
ENST00000373968.3:c.*2160C>A	ENSP00000363079.3:n.*2160C>A
NM_000242.2:c.*2160C>A , LRG_154t1:c.*2160C>A	NP_000233.1:n.*2160C>A
XM_006717861.2:c.*2160C>A	XP_006717924.1:n.*2160C>A
XM_011539816.1:c.*2160C>A	XP_011538118.1:n.*2160C>A
XM_006717861.4:c.*2160C>A	XP_006717924.1:n.*2160C>A
XM_011539816.3:c.*2160C>A	XP_011538118.1:n.*2160C>A
NM_000242.3:c.*2160C>A	NP_000233.1:n.*2160C>A
NM_001378373.1:c.*2160C>A MANE Select	NP_001365302.1:n.*2160C>A
NM_001378374.1:c.*2160C>A	NP_001365303.1:n.*2160C>A