Canonical Allele Identifier: CA6153407

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs112495985
• ExAC: 11:68682409 A / T
• gnomAD v2: 11-68682409-A-T
• gnomAD v4: 11-68914941-A-T
• MyVariant Identifiers: chr11:g.68682409A>T (hg19) ; chr11:g.68914941A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914941A>T , CM000673.2:g.68914941A>T	GRCh38
NC_000011.9:g.68682409A>T , CM000673.1:g.68682409A>T	GRCh37
NC_000011.8:g.68438985A>T	NCBI36
NG_007976.1:g.16091A>T , LRG_250:g.16091A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.830A>T MANE Select	ENSP00000255078.4:p.Gln277Leu
ENST00000539224.2:c.959A>T
ENST00000674955.1:c.830A>T	ENSP00000502463.1:p.Gln277Leu
ENST00000675118.1:c.177A>T
ENST00000675119.1:c.119A>T	ENSP00000501861.1:p.Gln40Leu
ENST00000675305.1:c.119A>T	ENSP00000502365.1:p.Gln40Leu
ENST00000675464.1:c.119A>T	ENSP00000502650.1:p.Gln40Leu
ENST00000675615.1:c.830A>T	ENSP00000502413.1:p.Gln277Leu
ENST00000675683.1:c.217A>T
ENST00000676173.1:n.874A>T
ENST00000676228.1:c.*153A>T	ENSP00000502375.1:n.*153A>T
ENST00000676239.1:n.144A>T
ENST00000255078.7:c.830A>T	ENSP00000255078.3:p.Gln277Leu
NM_002180.2:c.830A>T , LRG_250t1:c.830A>T	NP_002171.2:p.Gln277Leu
XM_005273974.2:c.-182A>T	XP_005274031.1:n.-182A>T
XM_005273976.1:c.830A>T	XP_005274033.1:p.Gln277Leu
XR_247198.1:n.932A>T
XR_949903.1:n.932A>T
XM_005273976.2:c.830A>T	XP_005274033.1:p.Gln277Leu
XM_017017669.2:c.-182A>T	XP_016873158.1:n.-182A>T
XM_017017670.2:c.-182A>T	XP_016873159.1:n.-182A>T
XM_017017671.2:c.830A>T	XP_016873160.1:p.Gln277Leu
XR_949903.3:n.928A>T
NM_002180.3:c.830A>T MANE Select	NP_002171.2:p.Gln277Leu