Canonical Allele Identifier: CA381644620

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68915012-G-T
• MyVariant Identifiers: chr11:g.68682480G>T (hg19) ; chr11:g.68915012G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915012G>T , CM000673.2:g.68915012G>T	GRCh38
NC_000011.9:g.68682480G>T , CM000673.1:g.68682480G>T	GRCh37
NC_000011.8:g.68439056G>T	NCBI36
NG_007976.1:g.16162G>T , LRG_250:g.16162G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.901G>T MANE Select	ENSP00000255078.4:p.Asp301Tyr
ENST00000539224.2:c.1030G>T
ENST00000674955.1:c.901G>T	ENSP00000502463.1:p.Asp301Tyr
ENST00000675118.1:c.248G>T
ENST00000675119.1:c.190G>T	ENSP00000501861.1:p.Asp64Tyr
ENST00000675305.1:c.190G>T	ENSP00000502365.1:p.Asp64Tyr
ENST00000675464.1:c.190G>T	ENSP00000502650.1:p.Asp64Tyr
ENST00000675615.1:c.901G>T	ENSP00000502413.1:p.Asp301Tyr
ENST00000675683.1:c.288G>T
ENST00000676173.1:n.945G>T
ENST00000676228.1:c.*224G>T	ENSP00000502375.1:n.*224G>T
ENST00000676239.1:n.215G>T
ENST00000255078.7:c.901G>T	ENSP00000255078.3:p.Asp301Tyr
NM_002180.2:c.901G>T , LRG_250t1:c.901G>T	NP_002171.2:p.Asp301Tyr
XM_005273974.2:c.-111G>T	XP_005274031.1:n.-111G>T
XM_005273976.1:c.901G>T	XP_005274033.1:p.Asp301Tyr
XR_247198.1:n.1003G>T
XR_949903.1:n.1003G>T
XM_005273976.2:c.901G>T	XP_005274033.1:p.Asp301Tyr
XM_017017669.2:c.-111G>T	XP_016873158.1:n.-111G>T
XM_017017670.2:c.-111G>T	XP_016873159.1:n.-111G>T
XM_017017671.2:c.901G>T	XP_016873160.1:p.Asp301Tyr
XR_949903.3:n.999G>T
NM_002180.3:c.901G>T MANE Select	NP_002171.2:p.Asp301Tyr