Canonical Allele Identifier: CA381651956

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936390-G-T
• MyVariant Identifiers: chr11:g.68703858G>T (hg19) ; chr11:g.68936390G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936390G>T , CM000673.2:g.68936390G>T	GRCh38
NC_000011.9:g.68703858G>T , CM000673.1:g.68703858G>T	GRCh37
NC_000011.8:g.68460434G>T	NCBI36
NG_007976.1:g.37540G>T , LRG_250:g.37540G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1910G>T MANE Select	ENSP00000255078.4:p.Arg637Leu
ENST00000674675.1:c.154G>T
ENST00000674878.1:c.154G>T
ENST00000674955.1:c.*627G>T	ENSP00000502463.1:n.*627G>T
ENST00000675118.1:c.1398G>T
ENST00000675389.1:n.185G>T
ENST00000675615.1:c.1910G>T	ENSP00000502413.1:p.Arg637Leu
ENST00000675648.1:n.1285G>T
ENST00000675916.1:c.154G>T
ENST00000676173.1:n.2655G>T
ENST00000676182.1:c.341G>T
ENST00000676228.1:c.*1233G>T	ENSP00000502375.1:n.*1233G>T
ENST00000255078.7:c.1910G>T	ENSP00000255078.3:p.Arg637Leu
ENST00000539064.5:n.1669G>T
ENST00000543739.5:n.903G>T
ENST00000545475.1:n.506G>T
NM_002180.2:c.1910G>T , LRG_250t1:c.1910G>T	NP_002171.2:p.Arg637Leu
XM_005273974.2:c.899G>T	XP_005274031.1:p.Arg300Leu
XM_005273975.2:c.782G>T	XP_005274032.1:p.Arg261Leu
XM_011544994.1:c.677G>T	XP_011543296.1:p.Arg226Leu
XR_949903.1:n.2012G>T
XM_005273975.3:c.782G>T	XP_005274032.1:p.Arg261Leu
XM_017017669.2:c.899G>T	XP_016873158.1:p.Arg300Leu
XM_017017670.2:c.899G>T	XP_016873159.1:p.Arg300Leu
XR_949903.3:n.2008G>T
NM_002180.3:c.1910G>T MANE Select	NP_002171.2:p.Arg637Leu