Canonical Allele Identifier: CA381653549
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936891C>G , CM000673.2:g.68936891C>G GRCh38
NC_000011.9:g.68704359C>G , CM000673.1:g.68704359C>G GRCh37
NC_000011.8:g.68460935C>G NCBI36
NG_007976.1:g.38041C>G , LRG_250:g.38041C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2411C>G MANE Select ENSP00000255078.4:p.Pro804Arg
ENST00000674675.1:c.588-32C>G
ENST00000674878.1:c.548-32C>G
ENST00000675118.1:c.1899C>G
ENST00000675389.1:n.686C>G
ENST00000675615.1:c.2411C>G ENSP00000502413.1:p.Pro804Arg
ENST00000675648.1:n.1786C>G
ENST00000675916.1:c.655C>G
ENST00000676173.1:n.3156C>G
ENST00000676182.1:c.842C>G
ENST00000676228.1:c.*1734C>G ENSP00000502375.1:n.*1734C>G
ENST00000255078.7:c.2411C>G ENSP00000255078.3:p.Pro804Arg
ENST00000539064.5:n.2170C>G
ENST00000543739.5:n.1404C>G
NM_002180.2:c.2411C>G , LRG_250t1:c.2411C>G NP_002171.2:p.Pro804Arg
XM_005273974.2:c.1400C>G XP_005274031.1:p.Pro467Arg
XM_005273975.2:c.1283C>G XP_005274032.1:p.Pro428Arg
XM_011544994.1:c.1178C>G XP_011543296.1:p.Pro393Arg
XR_949903.1:n.2513C>G
XM_005273975.3:c.1283C>G XP_005274032.1:p.Pro428Arg
XM_017017669.2:c.1400C>G XP_016873158.1:p.Pro467Arg
XM_017017670.2:c.1400C>G XP_016873159.1:p.Pro467Arg
XR_949903.3:n.2509C>G
NM_002180.3:c.2411C>G MANE Select NP_002171.2:p.Pro804Arg