Canonical Allele Identifier: CA381652064

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs77822399
• gnomAD v2: 11-68703887-G-T
• gnomAD v4: 11-68936419-G-T
• MyVariant Identifiers: chr11:g.68703887G>T (hg19) ; chr11:g.68936419G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936419G>T , CM000673.2:g.68936419G>T	GRCh38
NC_000011.9:g.68703887G>T , CM000673.1:g.68703887G>T	GRCh37
NC_000011.8:g.68460463G>T	NCBI36
NG_007976.1:g.37569G>T , LRG_250:g.37569G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1939G>T MANE Select	ENSP00000255078.4:p.Val647Phe
ENST00000674675.1:c.183G>T
ENST00000674878.1:c.183G>T
ENST00000674955.1:c.*656G>T	ENSP00000502463.1:n.*656G>T
ENST00000675118.1:c.1427G>T
ENST00000675389.1:n.214G>T
ENST00000675615.1:c.1939G>T	ENSP00000502413.1:p.Val647Phe
ENST00000675648.1:n.1314G>T
ENST00000675916.1:c.183G>T
ENST00000676173.1:n.2684G>T
ENST00000676182.1:c.370G>T
ENST00000676228.1:c.*1262G>T	ENSP00000502375.1:n.*1262G>T
ENST00000255078.7:c.1939G>T	ENSP00000255078.3:p.Val647Phe
ENST00000539064.5:n.1698G>T
ENST00000543739.5:n.932G>T
ENST00000545475.1:n.535G>T
NM_002180.2:c.1939G>T , LRG_250t1:c.1939G>T	NP_002171.2:p.Val647Phe
XM_005273974.2:c.928G>T	XP_005274031.1:p.Val310Phe
XM_005273975.2:c.811G>T	XP_005274032.1:p.Val271Phe
XM_011544994.1:c.706G>T	XP_011543296.1:p.Val236Phe
XR_949903.1:n.2041G>T
XM_005273975.3:c.811G>T	XP_005274032.1:p.Val271Phe
XM_017017669.2:c.928G>T	XP_016873158.1:p.Val310Phe
XM_017017670.2:c.928G>T	XP_016873159.1:p.Val310Phe
XR_949903.3:n.2037G>T
NM_002180.3:c.1939G>T MANE Select	NP_002171.2:p.Val647Phe