Canonical Allele Identifier: CA381644280

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68914854-T-C
• MyVariant Identifiers: chr11:g.68682322T>C (hg19) ; chr11:g.68914854T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914854T>C , CM000673.2:g.68914854T>C	GRCh38
NC_000011.9:g.68682322T>C , CM000673.1:g.68682322T>C	GRCh37
NC_000011.8:g.68438898T>C	NCBI36
NG_007976.1:g.16004T>C , LRG_250:g.16004T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.743T>C MANE Select	ENSP00000255078.4:p.Val248Ala
ENST00000539224.2:c.872T>C
ENST00000674955.1:c.743T>C	ENSP00000502463.1:p.Val248Ala
ENST00000675118.1:c.90T>C
ENST00000675119.1:c.32T>C	ENSP00000501861.1:p.Val11Ala
ENST00000675305.1:c.32T>C	ENSP00000502365.1:p.Val11Ala
ENST00000675464.1:c.32T>C	ENSP00000502650.1:p.Val11Ala
ENST00000675615.1:c.743T>C	ENSP00000502413.1:p.Val248Ala
ENST00000675683.1:c.130T>C
ENST00000676173.1:n.787T>C
ENST00000676228.1:c.*66T>C	ENSP00000502375.1:n.*66T>C
ENST00000676239.1:n.57T>C
ENST00000255078.7:c.743T>C	ENSP00000255078.3:p.Val248Ala
ENST00000539224.1:c.*66T>C	ENSP00000440465.1:n.*66T>C
NM_002180.2:c.743T>C , LRG_250t1:c.743T>C	NP_002171.2:p.Val248Ala
XM_005273974.2:c.-269T>C	XP_005274031.1:n.-269T>C
XM_005273976.1:c.743T>C	XP_005274033.1:p.Val248Ala
XR_247198.1:n.845T>C
XR_949903.1:n.845T>C
XM_005273976.2:c.743T>C	XP_005274033.1:p.Val248Ala
XM_017017669.2:c.-269T>C	XP_016873158.1:n.-269T>C
XM_017017670.2:c.-269T>C	XP_016873159.1:n.-269T>C
XM_017017671.2:c.743T>C	XP_016873160.1:p.Val248Ala
XR_949903.3:n.841T>C
NM_002180.3:c.743T>C MANE Select	NP_002171.2:p.Val248Ala