Canonical Allele Identifier: CA939177377

Gene: IGHMBP2

Linked Data

• gnomAD v3: 11-68915154-A-C
• gnomAD v4: 11-68915154-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915154A>C , CM000673.2:g.68915154A>C	GRCh38
NC_000011.9:g.68682622A>C , CM000673.1:g.68682622A>C	GRCh37
NC_000011.8:g.68439198A>C	NCBI36
NG_007976.1:g.16304A>C , LRG_250:g.16304A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.912+131A>C MANE Select	ENSP00000255078.4:n.912+131A>C
ENST00000539224.2:c.1041+131A>C
ENST00000674955.1:c.912+131A>C	ENSP00000502463.1:n.912+131A>C
ENST00000675118.1:c.259+131A>C
ENST00000675119.1:c.201+131A>C	ENSP00000501861.1:n.201+131A>C
ENST00000675305.1:c.201+131A>C	ENSP00000502365.1:n.201+131A>C
ENST00000675464.1:c.195+137A>C	ENSP00000502650.1:n.195+137A>C
ENST00000675615.1:c.912+131A>C	ENSP00000502413.1:n.912+131A>C
ENST00000675683.1:c.299+131A>C
ENST00000676173.1:n.956+131A>C
ENST00000676228.1:c.*235+131A>C	ENSP00000502375.1:n.*235+131A>C
ENST00000255078.7:c.912+131A>C	ENSP00000255078.3:n.912+131A>C
NM_002180.2:c.912+131A>C , LRG_250t1:c.912+131A>C	NP_002171.2:n.912+131A>C
XM_005273974.2:c.-100+131A>C	XP_005274031.1:n.-100+131A>C
XM_005273976.1:c.912+131A>C	XP_005274033.1:n.912+131A>C
XR_247198.1:n.1014+131A>C
XR_949903.1:n.1014+131A>C
XM_005273976.2:c.912+131A>C	XP_005274033.1:n.912+131A>C
XM_017017669.2:c.-100+131A>C	XP_016873158.1:n.-100+131A>C
XM_017017670.2:c.-100+131A>C	XP_016873159.1:n.-100+131A>C
XM_017017671.2:c.912+131A>C	XP_016873160.1:n.912+131A>C
XR_949903.3:n.1010+131A>C
NM_002180.3:c.912+131A>C MANE Select	NP_002171.2:n.912+131A>C