Canonical Allele Identifier: CA475280826
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1859556985
MyVariant Identifiers: chr11:g.68704315C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936847C>T , CM000673.2:g.68936847C>T GRCh38
NC_000011.9:g.68704315C>T , CM000673.1:g.68704315C>T GRCh37
NC_000011.8:g.68460891C>T NCBI36
NG_007976.1:g.37997C>T , LRG_250:g.37997C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2367C>T MANE Select ENSP00000255078.4:p.Pro789=
ENST00000674675.1:c.587+24C>T
ENST00000674878.1:c.547+64C>T
ENST00000674955.1:c.*1084C>T ENSP00000502463.1:n.*1084C>T
ENST00000675118.1:c.1855C>T
ENST00000675389.1:n.642C>T
ENST00000675615.1:c.2367C>T ENSP00000502413.1:p.Pro789=
ENST00000675648.1:n.1742C>T
ENST00000675916.1:c.611C>T
ENST00000676173.1:n.3112C>T
ENST00000676182.1:c.798C>T
ENST00000676228.1:c.*1690C>T ENSP00000502375.1:n.*1690C>T
ENST00000255078.7:c.2367C>T ENSP00000255078.3:p.Pro789=
ENST00000539064.5:n.2126C>T
ENST00000543739.5:n.1360C>T
NM_002180.2:c.2367C>T , LRG_250t1:c.2367C>T NP_002171.2:p.Pro789=
XM_005273974.2:c.1356C>T XP_005274031.1:p.Pro452=
XM_005273975.2:c.1239C>T XP_005274032.1:p.Pro413=
XM_011544994.1:c.1134C>T XP_011543296.1:p.Pro378=
XR_949903.1:n.2469C>T
XM_005273975.3:c.1239C>T XP_005274032.1:p.Pro413=
XM_017017669.2:c.1356C>T XP_016873158.1:p.Pro452=
XM_017017670.2:c.1356C>T XP_016873159.1:p.Pro452=
XR_949903.3:n.2465C>T
NM_002180.3:c.2367C>T MANE Select NP_002171.2:p.Pro789=