Canonical Allele Identifier: CA2519503934
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68915196_68915197insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT , CM000673.2:g.68915196_68915197insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT GRCh38
NC_000011.9:g.68682664_68682665insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT , CM000673.1:g.68682664_68682665insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT GRCh37
NC_000011.8:g.68439240_68439241insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT NCBI36
NG_007976.1:g.16346_16347insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT , LRG_250:g.16346_16347insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT MANE Select ENSP00000255078.4:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTT...
ENST00000539224.2:c.1041+173_1041+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
ENST00000674955.1:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT ENSP00000502463.1:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTT...
ENST00000675118.1:c.259+173_259+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
ENST00000675119.1:c.201+173_201+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT ENSP00000501861.1:n.201+173_201+174insTTTTTTTTTTTTTTTTTTTGTTT...
ENST00000675305.1:c.201+173_201+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT ENSP00000502365.1:n.201+173_201+174insTTTTTTTTTTTTTTTTTTTGTTT...
ENST00000675464.1:c.195+179_195+180insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT ENSP00000502650.1:n.195+179_195+180insTTTTTTTTTTTTTTTTTTTGTTT...
ENST00000675615.1:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT ENSP00000502413.1:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTT...
ENST00000675683.1:c.299+173_299+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
ENST00000676173.1:n.956+173_956+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
ENST00000676228.1:c.*235+173_*235+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT ENSP00000502375.1:n.*235+173_*235+174insTTTTTTTTTTTTTTTTTTTGT...
ENST00000255078.7:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT ENSP00000255078.3:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTT...
NM_002180.2:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT , LRG_250t1:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT NP_002171.2:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTT...
XM_005273974.2:c.-100+173_-100+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT XP_005274031.1:n.-100+173_-100+174insTTTTTTTTTTTTTTTTTTTGTTTT...
XM_005273976.1:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT XP_005274033.1:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTTTTT...
XR_247198.1:n.1014+173_1014+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
XR_949903.1:n.1014+173_1014+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
XM_005273976.2:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT XP_005274033.1:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTTTTT...
XM_017017669.2:c.-100+173_-100+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT XP_016873158.1:n.-100+173_-100+174insTTTTTTTTTTTTTTTTTTTGTTTT...
XM_017017670.2:c.-100+173_-100+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT XP_016873159.1:n.-100+173_-100+174insTTTTTTTTTTTTTTTTTTTGTTTT...
XM_017017671.2:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT XP_016873160.1:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTTTTT...
XR_949903.3:n.1010+173_1010+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
NM_002180.3:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT MANE Select NP_002171.2:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTGTTTTTTTTT...