Canonical Allele Identifier: CA475193648

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1317226870
• gnomAD v4: 11-68914993-A-G
• MyVariant Identifiers: chr11:g.68682461A>G (hg19) ; chr11:g.68914993A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914993A>G , CM000673.2:g.68914993A>G	GRCh38
NC_000011.9:g.68682461A>G , CM000673.1:g.68682461A>G	GRCh37
NC_000011.8:g.68439037A>G	NCBI36
NG_007976.1:g.16143A>G , LRG_250:g.16143A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.882A>G MANE Select	ENSP00000255078.4:p.Ala294=
ENST00000539224.2:c.1011A>G
ENST00000674955.1:c.882A>G	ENSP00000502463.1:p.Ala294=
ENST00000675118.1:c.229A>G
ENST00000675119.1:c.171A>G	ENSP00000501861.1:p.Ala57=
ENST00000675305.1:c.171A>G	ENSP00000502365.1:p.Ala57=
ENST00000675464.1:c.171A>G	ENSP00000502650.1:p.Ala57=
ENST00000675615.1:c.882A>G	ENSP00000502413.1:p.Ala294=
ENST00000675683.1:c.269A>G
ENST00000676173.1:n.926A>G
ENST00000676228.1:c.*205A>G	ENSP00000502375.1:n.*205A>G
ENST00000676239.1:n.196A>G
ENST00000255078.7:c.882A>G	ENSP00000255078.3:p.Ala294=
NM_002180.2:c.882A>G , LRG_250t1:c.882A>G	NP_002171.2:p.Ala294=
XM_005273974.2:c.-130A>G	XP_005274031.1:n.-130A>G
XM_005273976.1:c.882A>G	XP_005274033.1:p.Ala294=
XR_247198.1:n.984A>G
XR_949903.1:n.984A>G
XM_005273976.2:c.882A>G	XP_005274033.1:p.Ala294=
XM_017017669.2:c.-130A>G	XP_016873158.1:n.-130A>G
XM_017017670.2:c.-130A>G	XP_016873159.1:n.-130A>G
XM_017017671.2:c.882A>G	XP_016873160.1:p.Ala294=
XR_949903.3:n.980A>G
NM_002180.3:c.882A>G MANE Select	NP_002171.2:p.Ala294=