Canonical Allele Identifier: CA381649896

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933846-G-C
• MyVariant Identifiers: chr11:g.68701314G>C (hg19) ; chr11:g.68933846G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933846G>C , CM000673.2:g.68933846G>C	GRCh38
NC_000011.9:g.68701314G>C , CM000673.1:g.68701314G>C	GRCh37
NC_000011.8:g.68457890G>C	NCBI36
NG_007976.1:g.34996G>C , LRG_250:g.34996G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1470G>C MANE Select	ENSP00000255078.4:p.Leu490Phe
ENST00000674955.1:c.*187G>C	ENSP00000502463.1:n.*187G>C
ENST00000675118.1:c.958G>C
ENST00000675205.1:n.183+365G>C
ENST00000675615.1:c.1470G>C	ENSP00000502413.1:p.Leu490Phe
ENST00000675648.1:n.845G>C
ENST00000675997.1:n.113-618G>C
ENST00000676173.1:n.2215G>C
ENST00000676228.1:c.*793G>C	ENSP00000502375.1:n.*793G>C
ENST00000255078.7:c.1470G>C	ENSP00000255078.3:p.Leu490Phe
ENST00000537458.5:n.587G>C
ENST00000539064.5:n.1229G>C
ENST00000541229.5:n.165G>C
ENST00000543739.5:n.587G>C
NM_002180.2:c.1470G>C , LRG_250t1:c.1470G>C	NP_002171.2:p.Leu490Phe
XM_005273974.2:c.459G>C	XP_005274031.1:p.Leu153Phe
XM_005273975.2:c.342G>C	XP_005274032.1:p.Leu114Phe
XM_011544994.1:c.237G>C	XP_011543296.1:p.Leu79Phe
XR_949903.1:n.1572G>C
XM_005273975.3:c.342G>C	XP_005274032.1:p.Leu114Phe
XM_017017669.2:c.459G>C	XP_016873158.1:p.Leu153Phe
XM_017017670.2:c.459G>C	XP_016873159.1:p.Leu153Phe
XM_017017671.2:c.1470G>C	XP_016873160.1:p.Leu490Phe
XR_949903.3:n.1568G>C
NM_002180.3:c.1470G>C MANE Select	NP_002171.2:p.Leu490Phe