Canonical Allele Identifier: CA381644272

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68914850-G-T
• MyVariant Identifiers: chr11:g.68682318G>T (hg19) ; chr11:g.68914850G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914850G>T , CM000673.2:g.68914850G>T	GRCh38
NC_000011.9:g.68682318G>T , CM000673.1:g.68682318G>T	GRCh37
NC_000011.8:g.68438894G>T	NCBI36
NG_007976.1:g.16000G>T , LRG_250:g.16000G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.739G>T MANE Select	ENSP00000255078.4:p.Ala247Ser
ENST00000539224.2:c.868G>T
ENST00000674955.1:c.739G>T	ENSP00000502463.1:p.Ala247Ser
ENST00000675118.1:c.86G>T
ENST00000675119.1:c.28G>T	ENSP00000501861.1:p.Ala10Ser
ENST00000675305.1:c.28G>T	ENSP00000502365.1:p.Ala10Ser
ENST00000675464.1:c.28G>T	ENSP00000502650.1:p.Ala10Ser
ENST00000675615.1:c.739G>T	ENSP00000502413.1:p.Ala247Ser
ENST00000675683.1:c.126G>T
ENST00000676173.1:n.783G>T
ENST00000676228.1:c.*62G>T	ENSP00000502375.1:n.*62G>T
ENST00000676239.1:n.53G>T
ENST00000255078.7:c.739G>T	ENSP00000255078.3:p.Ala247Ser
ENST00000539224.1:c.*62G>T	ENSP00000440465.1:n.*62G>T
NM_002180.2:c.739G>T , LRG_250t1:c.739G>T	NP_002171.2:p.Ala247Ser
XM_005273974.2:c.-273G>T	XP_005274031.1:n.-273G>T
XM_005273976.1:c.739G>T	XP_005274033.1:p.Ala247Ser
XR_247198.1:n.841G>T
XR_949903.1:n.841G>T
XM_005273976.2:c.739G>T	XP_005274033.1:p.Ala247Ser
XM_017017669.2:c.-273G>T	XP_016873158.1:n.-273G>T
XM_017017670.2:c.-273G>T	XP_016873159.1:n.-273G>T
XM_017017671.2:c.739G>T	XP_016873160.1:p.Ala247Ser
XR_949903.3:n.837G>T
NM_002180.3:c.739G>T MANE Select	NP_002171.2:p.Ala247Ser