Canonical Allele Identifier: CA381649682

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701279G>T (hg19) ; chr11:g.68933811G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933811G>T , CM000673.2:g.68933811G>T	GRCh38
NC_000011.9:g.68701279G>T , CM000673.1:g.68701279G>T	GRCh37
NC_000011.8:g.68457855G>T	NCBI36
NG_007976.1:g.34961G>T , LRG_250:g.34961G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1435G>T MANE Select	ENSP00000255078.4:p.Ala479Ser
ENST00000674955.1:c.*152G>T	ENSP00000502463.1:n.*152G>T
ENST00000675118.1:c.923G>T
ENST00000675205.1:n.183+330G>T
ENST00000675615.1:c.1435G>T	ENSP00000502413.1:p.Ala479Ser
ENST00000675648.1:n.810G>T
ENST00000675997.1:n.113-653G>T
ENST00000676173.1:n.2180G>T
ENST00000676228.1:c.*758G>T	ENSP00000502375.1:n.*758G>T
ENST00000255078.7:c.1435G>T	ENSP00000255078.3:p.Ala479Ser
ENST00000537458.5:n.552G>T
ENST00000539064.5:n.1194G>T
ENST00000541229.5:n.130G>T
ENST00000543739.5:n.552G>T
NM_002180.2:c.1435G>T , LRG_250t1:c.1435G>T	NP_002171.2:p.Ala479Ser
XM_005273974.2:c.424G>T	XP_005274031.1:p.Ala142Ser
XM_005273975.2:c.307G>T	XP_005274032.1:p.Ala103Ser
XM_011544994.1:c.202G>T	XP_011543296.1:p.Ala68Ser
XR_949903.1:n.1537G>T
XM_005273975.3:c.307G>T	XP_005274032.1:p.Ala103Ser
XM_017017669.2:c.424G>T	XP_016873158.1:p.Ala142Ser
XM_017017670.2:c.424G>T	XP_016873159.1:p.Ala142Ser
XM_017017671.2:c.1435G>T	XP_016873160.1:p.Ala479Ser
XR_949903.3:n.1533G>T
NM_002180.3:c.1435G>T MANE Select	NP_002171.2:p.Ala479Ser