Canonical Allele Identifier: CA381651519
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936261A>G , CM000673.2:g.68936261A>G GRCh38
NC_000011.9:g.68703729A>G , CM000673.1:g.68703729A>G GRCh37
NC_000011.8:g.68460305A>G NCBI36
NG_007976.1:g.37411A>G , LRG_250:g.37411A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1781A>G MANE Select ENSP00000255078.4:p.Asp594Gly
ENST00000674675.1:c.25A>G
ENST00000674878.1:c.25A>G
ENST00000674955.1:c.*498A>G ENSP00000502463.1:n.*498A>G
ENST00000675118.1:c.1269A>G
ENST00000675389.1:n.56A>G
ENST00000675615.1:c.1781A>G ENSP00000502413.1:p.Asp594Gly
ENST00000675648.1:n.1156A>G
ENST00000675916.1:c.25A>G
ENST00000676173.1:n.2526A>G
ENST00000676182.1:c.212A>G
ENST00000676228.1:c.*1104A>G ENSP00000502375.1:n.*1104A>G
ENST00000255078.7:c.1781A>G ENSP00000255078.3:p.Asp594Gly
ENST00000539064.5:n.1540A>G
ENST00000541229.5:n.476A>G
ENST00000543739.5:n.774A>G
ENST00000545475.1:n.377A>G
NM_002180.2:c.1781A>G , LRG_250t1:c.1781A>G NP_002171.2:p.Asp594Gly
XM_005273974.2:c.770A>G XP_005274031.1:p.Asp257Gly
XM_005273975.2:c.653A>G XP_005274032.1:p.Asp218Gly
XM_011544994.1:c.548A>G XP_011543296.1:p.Asp183Gly
XR_949903.1:n.1883A>G
XM_005273975.3:c.653A>G XP_005274032.1:p.Asp218Gly
XM_017017669.2:c.770A>G XP_016873158.1:p.Asp257Gly
XM_017017670.2:c.770A>G XP_016873159.1:p.Asp257Gly
XR_949903.3:n.1879A>G
NM_002180.3:c.1781A>G MANE Select NP_002171.2:p.Asp594Gly