Canonical Allele Identifier: CA381651506
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936255C>A , CM000673.2:g.68936255C>A GRCh38
NC_000011.9:g.68703723C>A , CM000673.1:g.68703723C>A GRCh37
NC_000011.8:g.68460299C>A NCBI36
NG_007976.1:g.37405C>A , LRG_250:g.37405C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1775C>A MANE Select ENSP00000255078.4:p.Ala592Asp
ENST00000674675.1:c.19C>A
ENST00000674878.1:c.19C>A
ENST00000674955.1:c.*492C>A ENSP00000502463.1:n.*492C>A
ENST00000675118.1:c.1263C>A
ENST00000675389.1:n.50C>A
ENST00000675615.1:c.1775C>A ENSP00000502413.1:p.Ala592Asp
ENST00000675648.1:n.1150C>A
ENST00000675916.1:c.19C>A
ENST00000676173.1:n.2520C>A
ENST00000676182.1:c.206C>A
ENST00000676228.1:c.*1098C>A ENSP00000502375.1:n.*1098C>A
ENST00000255078.7:c.1775C>A ENSP00000255078.3:p.Ala592Asp
ENST00000539064.5:n.1534C>A
ENST00000541229.5:n.470C>A
ENST00000543739.5:n.768C>A
ENST00000545475.1:n.371C>A
NM_002180.2:c.1775C>A , LRG_250t1:c.1775C>A NP_002171.2:p.Ala592Asp
XM_005273974.2:c.764C>A XP_005274031.1:p.Ala255Asp
XM_005273975.2:c.647C>A XP_005274032.1:p.Ala216Asp
XM_011544994.1:c.542C>A XP_011543296.1:p.Ala181Asp
XR_949903.1:n.1877C>A
XM_005273975.3:c.647C>A XP_005274032.1:p.Ala216Asp
XM_017017669.2:c.764C>A XP_016873158.1:p.Ala255Asp
XM_017017670.2:c.764C>A XP_016873159.1:p.Ala255Asp
XR_949903.3:n.1873C>A
NM_002180.3:c.1775C>A MANE Select NP_002171.2:p.Ala592Asp