Canonical Allele Identifier: CA381651670

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703785G>C (hg19) ; chr11:g.68936317G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936317G>C , CM000673.2:g.68936317G>C	GRCh38
NC_000011.9:g.68703785G>C , CM000673.1:g.68703785G>C	GRCh37
NC_000011.8:g.68460361G>C	NCBI36
NG_007976.1:g.37467G>C , LRG_250:g.37467G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1837G>C MANE Select	ENSP00000255078.4:p.Asp613His
ENST00000674675.1:c.81G>C
ENST00000674878.1:c.81G>C
ENST00000674955.1:c.*554G>C	ENSP00000502463.1:n.*554G>C
ENST00000675118.1:c.1325G>C
ENST00000675389.1:n.112G>C
ENST00000675615.1:c.1837G>C	ENSP00000502413.1:p.Asp613His
ENST00000675648.1:n.1212G>C
ENST00000675916.1:c.81G>C
ENST00000676173.1:n.2582G>C
ENST00000676182.1:c.268G>C
ENST00000676228.1:c.*1160G>C	ENSP00000502375.1:n.*1160G>C
ENST00000255078.7:c.1837G>C	ENSP00000255078.3:p.Asp613His
ENST00000539064.5:n.1596G>C
ENST00000541229.5:n.532G>C
ENST00000543739.5:n.830G>C
ENST00000545475.1:n.433G>C
NM_002180.2:c.1837G>C , LRG_250t1:c.1837G>C	NP_002171.2:p.Asp613His
XM_005273974.2:c.826G>C	XP_005274031.1:p.Asp276His
XM_005273975.2:c.709G>C	XP_005274032.1:p.Asp237His
XM_011544994.1:c.604G>C	XP_011543296.1:p.Asp202His
XR_949903.1:n.1939G>C
XM_005273975.3:c.709G>C	XP_005274032.1:p.Asp237His
XM_017017669.2:c.826G>C	XP_016873158.1:p.Asp276His
XM_017017670.2:c.826G>C	XP_016873159.1:p.Asp276His
XR_949903.3:n.1935G>C
NM_002180.3:c.1837G>C MANE Select	NP_002171.2:p.Asp613His