Canonical Allele Identifier: CA207457466
Gene: MBL2 HGNC NCBI

Linked Data

dbSNP Id: rs996968301

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52772259G>C , CM000672.2:g.52772259G>C GRCh38
NC_000010.10:g.54532019G>C , CM000672.1:g.54532019G>C GRCh37
NC_000010.9:g.54202025G>C NCBI36
NG_008196.1:g.4442C>G , LRG_154:g.4442C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000674931.1:c.-10+478C>G MANE Select ENSP00000502789.1:n.-10+478C>G
ENST00000675947.1:c.-25+478C>G ENSP00000502615.1:n.-25+478C>G
XM_006717861.2:c.-25+478C>G XP_006717924.1:n.-25+478C>G
XM_011539816.1:c.-10+478C>G XP_011538118.1:n.-10+478C>G
XM_006717861.4:c.-25+478C>G XP_006717924.1:n.-25+478C>G
XM_011539816.3:c.-10+478C>G XP_011538118.1:n.-10+478C>G
NM_001378373.1:c.-10+478C>G MANE Select NP_001365302.1:n.-10+478C>G
NM_001378374.1:c.-25+478C>G NP_001365303.1:n.-25+478C>G