Canonical Allele Identifier: CA381652827
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936590T>G , CM000673.2:g.68936590T>G GRCh38
NC_000011.9:g.68704058T>G , CM000673.1:g.68704058T>G GRCh37
NC_000011.8:g.68460634T>G NCBI36
NG_007976.1:g.37740T>G , LRG_250:g.37740T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2110T>G MANE Select ENSP00000255078.4:p.Ser704Ala
ENST00000674675.1:c.354T>G
ENST00000674878.1:c.354T>G
ENST00000674955.1:c.*827T>G ENSP00000502463.1:n.*827T>G
ENST00000675118.1:c.1598T>G
ENST00000675389.1:n.385T>G
ENST00000675615.1:c.2110T>G ENSP00000502413.1:p.Ser704Ala
ENST00000675648.1:n.1485T>G
ENST00000675916.1:c.354T>G
ENST00000676173.1:n.2855T>G
ENST00000676182.1:c.541T>G
ENST00000676228.1:c.*1433T>G ENSP00000502375.1:n.*1433T>G
ENST00000255078.7:c.2110T>G ENSP00000255078.3:p.Ser704Ala
ENST00000539064.5:n.1869T>G
ENST00000543739.5:n.1103T>G
NM_002180.2:c.2110T>G , LRG_250t1:c.2110T>G NP_002171.2:p.Ser704Ala
XM_005273974.2:c.1099T>G XP_005274031.1:p.Ser367Ala
XM_005273975.2:c.982T>G XP_005274032.1:p.Ser328Ala
XM_011544994.1:c.877T>G XP_011543296.1:p.Ser293Ala
XR_949903.1:n.2212T>G
XM_005273975.3:c.982T>G XP_005274032.1:p.Ser328Ala
XM_017017669.2:c.1099T>G XP_016873158.1:p.Ser367Ala
XM_017017670.2:c.1099T>G XP_016873159.1:p.Ser367Ala
XR_949903.3:n.2208T>G
NM_002180.3:c.2110T>G MANE Select NP_002171.2:p.Ser704Ala