Canonical Allele Identifier: CA381653688
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936932C>G , CM000673.2:g.68936932C>G GRCh38
NC_000011.9:g.68704400C>G , CM000673.1:g.68704400C>G GRCh37
NC_000011.8:g.68460976C>G NCBI36
NG_007976.1:g.38082C>G , LRG_250:g.38082C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2452C>G MANE Select ENSP00000255078.4:p.Pro818Ala
ENST00000674675.1:c.597C>G
ENST00000674878.1:c.557C>G
ENST00000675118.1:c.1940C>G
ENST00000675389.1:n.727C>G
ENST00000675615.1:c.2452C>G ENSP00000502413.1:p.Pro818Ala
ENST00000675648.1:n.1827C>G
ENST00000675916.1:c.696C>G
ENST00000676173.1:n.3197C>G
ENST00000676182.1:c.883C>G
ENST00000676228.1:c.*1775C>G ENSP00000502375.1:n.*1775C>G
ENST00000255078.7:c.2452C>G ENSP00000255078.3:p.Pro818Ala
ENST00000539064.5:n.2211C>G
ENST00000543739.5:n.1445C>G
NM_002180.2:c.2452C>G , LRG_250t1:c.2452C>G NP_002171.2:p.Pro818Ala
XM_005273974.2:c.1441C>G XP_005274031.1:p.Pro481Ala
XM_005273975.2:c.1324C>G XP_005274032.1:p.Pro442Ala
XM_011544994.1:c.1219C>G XP_011543296.1:p.Pro407Ala
XR_949903.1:n.2554C>G
XM_005273975.3:c.1324C>G XP_005274032.1:p.Pro442Ala
XM_017017669.2:c.1441C>G XP_016873158.1:p.Pro481Ala
XM_017017670.2:c.1441C>G XP_016873159.1:p.Pro481Ala
XR_949903.3:n.2550C>G
NM_002180.3:c.2452C>G MANE Select NP_002171.2:p.Pro818Ala