Canonical Allele Identifier: CA381650221

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933889-G-C
• MyVariant Identifiers: chr11:g.68701357G>C (hg19) ; chr11:g.68933889G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933889G>C , CM000673.2:g.68933889G>C	GRCh38
NC_000011.9:g.68701357G>C , CM000673.1:g.68701357G>C	GRCh37
NC_000011.8:g.68457933G>C	NCBI36
NG_007976.1:g.35039G>C , LRG_250:g.35039G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1513G>C MANE Select	ENSP00000255078.4:p.Asp505His
ENST00000674955.1:c.*230G>C	ENSP00000502463.1:n.*230G>C
ENST00000675118.1:c.1001G>C
ENST00000675205.1:n.183+408G>C
ENST00000675615.1:c.1513G>C	ENSP00000502413.1:p.Asp505His
ENST00000675648.1:n.888G>C
ENST00000675997.1:n.113-575G>C
ENST00000676173.1:n.2258G>C
ENST00000676228.1:c.*836G>C	ENSP00000502375.1:n.*836G>C
ENST00000255078.7:c.1513G>C	ENSP00000255078.3:p.Asp505His
ENST00000537458.5:n.630G>C
ENST00000539064.5:n.1272G>C
ENST00000541229.5:n.208G>C
ENST00000543739.5:n.630G>C
NM_002180.2:c.1513G>C , LRG_250t1:c.1513G>C	NP_002171.2:p.Asp505His
XM_005273974.2:c.502G>C	XP_005274031.1:p.Asp168His
XM_005273975.2:c.385G>C	XP_005274032.1:p.Asp129His
XM_011544994.1:c.280G>C	XP_011543296.1:p.Asp94His
XR_949903.1:n.1615G>C
XM_005273975.3:c.385G>C	XP_005274032.1:p.Asp129His
XM_017017669.2:c.502G>C	XP_016873158.1:p.Asp168His
XM_017017670.2:c.502G>C	XP_016873159.1:p.Asp168His
XM_017017671.2:c.1513G>C	XP_016873160.1:p.Asp505His
XR_949903.3:n.1611G>C
NM_002180.3:c.1513G>C MANE Select	NP_002171.2:p.Asp505His