Canonical Allele Identifier: CA2614746035
Gene: IGHMBP2 HGNC NCBI

Linked Data

gnomAD v4: 11-68908002-T-TC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908002_68908003insC , CM000673.2:g.68908002_68908003insC GRCh38
NC_000011.9:g.68675470_68675471insC , CM000673.1:g.68675470_68675471insC GRCh37
NC_000011.8:g.68432046_68432047insC NCBI36
NG_007976.1:g.9152_9153insC , LRG_250:g.9152_9153insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.257-143_257-142insC MANE Select ENSP00000255078.4:n.257-143_257-142insC
ENST00000539224.2:c.220-143_220-142insC
ENST00000674583.1:c.220-143_220-142insC
ENST00000674597.1:c.68-143_68-142insC
ENST00000674955.1:c.257-143_257-142insC ENSP00000502463.1:n.257-143_257-142insC
ENST00000675142.1:n.220-143_220-142insC
ENST00000675469.1:c.133-143_133-142insC
ENST00000675615.1:c.257-143_257-142insC ENSP00000502413.1:n.257-143_257-142insC
ENST00000675674.1:n.220-143_220-142insC
ENST00000675873.1:c.220-143_220-142insC
ENST00000676173.1:n.301-143_301-142insC
ENST00000676228.1:c.257-143_257-142insC ENSP00000502375.1:n.257-143_257-142insC
ENST00000255078.7:c.257-143_257-142insC ENSP00000255078.3:n.257-143_257-142insC
ENST00000539224.1:c.257-143_257-142insC ENSP00000440465.1:n.257-143_257-142insC
ENST00000544541.1:c.87-143_87-142insC ENSP00000443343.1:n.87-143_87-142insC
ENST00000545146.1:c.*127-143_*127-142insC ENSP00000456366.1:n.*127-143_*127-142insC
NM_002180.2:c.257-143_257-142insC , LRG_250t1:c.257-143_257-142insC NP_002171.2:n.257-143_257-142insC
XM_005273974.2:c.-755-143_-755-142insC XP_005274031.1:n.-755-143_-755-142insC
XM_005273976.1:c.257-143_257-142insC XP_005274033.1:n.257-143_257-142insC
XR_247198.1:n.359-143_359-142insC
XR_949903.1:n.359-143_359-142insC
XM_005273976.2:c.257-143_257-142insC XP_005274033.1:n.257-143_257-142insC
XM_017017669.2:c.-657-143_-657-142insC XP_016873158.1:n.-657-143_-657-142insC
XM_017017671.2:c.257-143_257-142insC XP_016873160.1:n.257-143_257-142insC
XR_949903.3:n.355-143_355-142insC
NM_002180.3:c.257-143_257-142insC MANE Select NP_002171.2:n.257-143_257-142insC
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