Canonical Allele Identifier: CA2497321214

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1859429403
• gnomAD v4: 11-68934136-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68934139_68934141del , CM000673.2:g.68934139_68934141del	GRCh38
NC_000011.9:g.68701607_68701609del , CM000673.1:g.68701607_68701609del	GRCh37
NC_000011.8:g.68458183_68458185del	NCBI36
NG_007976.1:g.35289_35291del , LRG_250:g.35289_35291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1537+226_1537+228del MANE Select	ENSP00000255078.4:n.1537+226_1537+228del
ENST00000674955.1:c.*254+226_*254+228del	ENSP00000502463.1:n.*254+226_*254+228del
ENST00000675118.1:c.1025+226_1025+228del
ENST00000675205.1:n.184-325_184-323del
ENST00000675615.1:c.1537+226_1537+228del	ENSP00000502413.1:n.1537+226_1537+228del
ENST00000675648.1:n.912+226_912+228del
ENST00000675997.1:n.113-325_113-323del
ENST00000676173.1:n.2282+226_2282+228del
ENST00000676228.1:c.*860+226_*860+228del	ENSP00000502375.1:n.*860+226_*860+228del
ENST00000255078.7:c.1537+226_1537+228del	ENSP00000255078.3:n.1537+226_1537+228del
ENST00000539064.5:n.1296+226_1296+228del
ENST00000541229.5:n.232+226_232+228del
ENST00000543739.5:n.654+226_654+228del
NM_002180.2:c.1537+226_1537+228del , LRG_250t1:c.1537+226_1537+228del	NP_002171.2:n.1537+226_1537+228del
XM_005273974.2:c.526+226_526+228del	XP_005274031.1:n.526+226_526+228del
XM_005273975.2:c.409+226_409+228del	XP_005274032.1:n.409+226_409+228del
XM_011544994.1:c.304+226_304+228del	XP_011543296.1:n.304+226_304+228del
XR_949903.1:n.1639+226_1639+228del
XM_005273975.3:c.409+226_409+228del	XP_005274032.1:n.409+226_409+228del
XM_017017669.2:c.526+226_526+228del	XP_016873158.1:n.526+226_526+228del
XM_017017670.2:c.526+226_526+228del	XP_016873159.1:n.526+226_526+228del
XM_017017671.2:c.1537+226_1537+228del	XP_016873160.1:n.1537+226_1537+228del
XR_949903.3:n.1635+226_1635+228del
NM_002180.3:c.1537+226_1537+228del MANE Select	NP_002171.2:n.1537+226_1537+228del