Canonical Allele Identifier: CA381650399
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933915T>C , CM000673.2:g.68933915T>C GRCh38
NC_000011.9:g.68701383T>C , CM000673.1:g.68701383T>C GRCh37
NC_000011.8:g.68457959T>C NCBI36
NG_007976.1:g.35065T>C , LRG_250:g.35065T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1537+2T>C MANE Select ENSP00000255078.4:n.1537+2T>C
ENST00000674955.1:c.*254+2T>C ENSP00000502463.1:n.*254+2T>C
ENST00000675118.1:c.1025+2T>C
ENST00000675205.1:n.183+434T>C
ENST00000675615.1:c.1537+2T>C ENSP00000502413.1:n.1537+2T>C
ENST00000675648.1:n.912+2T>C
ENST00000675997.1:n.113-549T>C
ENST00000676173.1:n.2282+2T>C
ENST00000676228.1:c.*860+2T>C ENSP00000502375.1:n.*860+2T>C
ENST00000255078.7:c.1537+2T>C ENSP00000255078.3:n.1537+2T>C
ENST00000537458.5:n.656T>C
ENST00000539064.5:n.1296+2T>C
ENST00000541229.5:n.232+2T>C
ENST00000543739.5:n.654+2T>C
NM_002180.2:c.1537+2T>C , LRG_250t1:c.1537+2T>C NP_002171.2:n.1537+2T>C
XM_005273974.2:c.526+2T>C XP_005274031.1:n.526+2T>C
XM_005273975.2:c.409+2T>C XP_005274032.1:n.409+2T>C
XM_011544994.1:c.304+2T>C XP_011543296.1:n.304+2T>C
XR_949903.1:n.1639+2T>C
XM_005273975.3:c.409+2T>C XP_005274032.1:n.409+2T>C
XM_017017669.2:c.526+2T>C XP_016873158.1:n.526+2T>C
XM_017017670.2:c.526+2T>C XP_016873159.1:n.526+2T>C
XM_017017671.2:c.1537+2T>C XP_016873160.1:n.1537+2T>C
XR_949903.3:n.1635+2T>C
NM_002180.3:c.1537+2T>C MANE Select NP_002171.2:n.1537+2T>C