Canonical Allele Identifier: CA2497320961
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1858278483

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908196_68908201dup , CM000673.2:g.68908196_68908201dup GRCh38
NC_000011.9:g.68675664_68675669dup , CM000673.1:g.68675664_68675669dup GRCh37
NC_000011.8:g.68432240_68432245dup NCBI36
NG_007976.1:g.9346_9351dup , LRG_250:g.9346_9351dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.308_313dup MANE Select ENSP00000255078.4:p.Gly104_Ile105insThrGly
ENST00000539224.2:c.271_276dup
ENST00000674583.1:c.271_276dup
ENST00000674597.1:c.119_124dup
ENST00000674955.1:c.308_313dup ENSP00000502463.1:p.Gly104_Ile105insThrGly
ENST00000675142.1:n.271_276dup
ENST00000675469.1:c.184_189dup
ENST00000675615.1:c.308_313dup ENSP00000502413.1:p.Gly104_Ile105insThrGly
ENST00000675674.1:n.271_276dup
ENST00000675873.1:c.271_276dup
ENST00000676173.1:n.352_357dup
ENST00000676228.1:c.308_313dup ENSP00000502375.1:p.Gly104_Ile105insThrGly
ENST00000255078.7:c.308_313dup ENSP00000255078.3:p.Gly104_Ile105insThrGly
ENST00000539224.1:c.308_313dup ENSP00000440465.1:p.Gly104_Ile105insThrGly
ENST00000544541.1:c.*48_*53dup ENSP00000443343.1:n.*48_*53dup
NM_002180.2:c.308_313dup , LRG_250t1:c.308_313dup NP_002171.2:p.Gly104_Ile105insThrGly
XM_005273974.2:c.-704_-699dup XP_005274031.1:n.-704_-699dup
XM_005273976.1:c.308_313dup XP_005274033.1:p.Gly104_Ile105insThrGly
XR_247198.1:n.410_415dup
XR_949903.1:n.410_415dup
XM_005273976.2:c.308_313dup XP_005274033.1:p.Gly104_Ile105insThrGly
XM_017017669.2:c.-606_-601dup XP_016873158.1:n.-606_-601dup
XM_017017671.2:c.308_313dup XP_016873160.1:p.Gly104_Ile105insThrGly
XR_949903.3:n.406_411dup
NM_002180.3:c.308_313dup MANE Select NP_002171.2:p.Gly104_Ile105insThrGly