Canonical Allele Identifier: CA381651538
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936271C>G , CM000673.2:g.68936271C>G GRCh38
NC_000011.9:g.68703739C>G , CM000673.1:g.68703739C>G GRCh37
NC_000011.8:g.68460315C>G NCBI36
NG_007976.1:g.37421C>G , LRG_250:g.37421C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1791C>G MANE Select ENSP00000255078.4:p.Ile597Met
ENST00000674675.1:c.35C>G
ENST00000674878.1:c.35C>G
ENST00000674955.1:c.*508C>G ENSP00000502463.1:n.*508C>G
ENST00000675118.1:c.1279C>G
ENST00000675389.1:n.66C>G
ENST00000675615.1:c.1791C>G ENSP00000502413.1:p.Ile597Met
ENST00000675648.1:n.1166C>G
ENST00000675916.1:c.35C>G
ENST00000676173.1:n.2536C>G
ENST00000676182.1:c.222C>G
ENST00000676228.1:c.*1114C>G ENSP00000502375.1:n.*1114C>G
ENST00000255078.7:c.1791C>G ENSP00000255078.3:p.Ile597Met
ENST00000539064.5:n.1550C>G
ENST00000541229.5:n.486C>G
ENST00000543739.5:n.784C>G
ENST00000545475.1:n.387C>G
NM_002180.2:c.1791C>G , LRG_250t1:c.1791C>G NP_002171.2:p.Ile597Met
XM_005273974.2:c.780C>G XP_005274031.1:p.Ile260Met
XM_005273975.2:c.663C>G XP_005274032.1:p.Ile221Met
XM_011544994.1:c.558C>G XP_011543296.1:p.Ile186Met
XR_949903.1:n.1893C>G
XM_005273975.3:c.663C>G XP_005274032.1:p.Ile221Met
XM_017017669.2:c.780C>G XP_016873158.1:p.Ile260Met
XM_017017670.2:c.780C>G XP_016873159.1:p.Ile260Met
XR_949903.3:n.1889C>G
NM_002180.3:c.1791C>G MANE Select NP_002171.2:p.Ile597Met