Canonical Allele Identifier: CA381651507
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1775C>G MANE Select ENSP00000255078.4:p.Ala592Gly
ENST00000674675.1:c.19C>G
ENST00000674878.1:c.19C>G
ENST00000674955.1:c.*492C>G ENSP00000502463.1:n.*492C>G
ENST00000675118.1:c.1263C>G
ENST00000675389.1:n.50C>G
ENST00000675615.1:c.1775C>G ENSP00000502413.1:p.Ala592Gly
ENST00000675648.1:n.1150C>G
ENST00000675916.1:c.19C>G
ENST00000676173.1:n.2520C>G
ENST00000676182.1:c.206C>G
ENST00000676228.1:c.*1098C>G ENSP00000502375.1:n.*1098C>G
ENST00000255078.7:c.1775C>G ENSP00000255078.3:p.Ala592Gly
ENST00000539064.5:n.1534C>G
ENST00000541229.5:n.470C>G
ENST00000543739.5:n.768C>G
ENST00000545475.1:n.371C>G
NM_002180.2:c.1775C>G , LRG_250t1:c.1775C>G NP_002171.2:p.Ala592Gly
XM_005273974.2:c.764C>G XP_005274031.1:p.Ala255Gly
XM_005273975.2:c.647C>G XP_005274032.1:p.Ala216Gly
XM_011544994.1:c.542C>G XP_011543296.1:p.Ala181Gly
XR_949903.1:n.1877C>G
XM_005273975.3:c.647C>G XP_005274032.1:p.Ala216Gly
XM_017017669.2:c.764C>G XP_016873158.1:p.Ala255Gly
XM_017017670.2:c.764C>G XP_016873159.1:p.Ala255Gly
XR_949903.3:n.1873C>G
NM_002180.3:c.1775C>G MANE Select NP_002171.2:p.Ala592Gly