Canonical Allele Identifier: CA939178889

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1858614823
• gnomAD v3: 11-68915228-G-T
• gnomAD v4: 11-68915228-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915228G>T , CM000673.2:g.68915228G>T	GRCh38
NC_000011.9:g.68682696G>T , CM000673.1:g.68682696G>T	GRCh37
NC_000011.8:g.68439272G>T	NCBI36
NG_007976.1:g.16378G>T , LRG_250:g.16378G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.912+205G>T MANE Select	ENSP00000255078.4:n.912+205G>T
ENST00000539224.2:c.1041+205G>T
ENST00000674955.1:c.912+205G>T	ENSP00000502463.1:n.912+205G>T
ENST00000675118.1:c.259+205G>T
ENST00000675119.1:c.201+205G>T	ENSP00000501861.1:n.201+205G>T
ENST00000675305.1:c.201+205G>T	ENSP00000502365.1:n.201+205G>T
ENST00000675464.1:c.195+211G>T	ENSP00000502650.1:n.195+211G>T
ENST00000675615.1:c.912+205G>T	ENSP00000502413.1:n.912+205G>T
ENST00000675683.1:c.299+205G>T
ENST00000676173.1:n.956+205G>T
ENST00000676228.1:c.*235+205G>T	ENSP00000502375.1:n.*235+205G>T
ENST00000255078.7:c.912+205G>T	ENSP00000255078.3:n.912+205G>T
NM_002180.2:c.912+205G>T , LRG_250t1:c.912+205G>T	NP_002171.2:n.912+205G>T
XM_005273974.2:c.-100+205G>T	XP_005274031.1:n.-100+205G>T
XM_005273976.1:c.912+205G>T	XP_005274033.1:n.912+205G>T
XR_247198.1:n.1014+205G>T
XR_949903.1:n.1014+205G>T
XM_005273976.2:c.912+205G>T	XP_005274033.1:n.912+205G>T
XM_017017669.2:c.-100+205G>T	XP_016873158.1:n.-100+205G>T
XM_017017670.2:c.-100+205G>T	XP_016873159.1:n.-100+205G>T
XM_017017671.2:c.912+205G>T	XP_016873160.1:n.912+205G>T
XR_949903.3:n.1010+205G>T
NM_002180.3:c.912+205G>T MANE Select	NP_002171.2:n.912+205G>T