Canonical Allele Identifier: CA352692627

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49122814-T-A
• MyVariant Identifiers: chr3:g.49160247T>A (hg19) ; chr3:g.49122814T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122814T>A , CM000665.2:g.49122814T>A	GRCh38
NC_000003.11:g.49160247T>A , CM000665.1:g.49160247T>A	GRCh37
NC_000003.10:g.49135251T>A	NCBI36
NG_008094.1:g.15353A>T
NG_054716.1:g.3125A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4463A>T MANE Select	ENSP00000307156.4:p.Gln1488Leu
ENST00000305544.8:c.4463A>T	ENSP00000307156.4:p.Gln1488Leu
ENST00000418109.5:c.4463A>T	ENSP00000388325.1:p.Gln1488Leu
ENST00000469665.1:n.772A>T
NM_002292.3:c.4463A>T	NP_002283.3:p.Gln1488Leu
XM_005265127.3:c.4463A>T	XP_005265184.1:p.Gln1488Leu
XM_005265127.4:c.4463A>T	XP_005265184.1:p.Gln1488Leu
NM_002292.4:c.4463A>T MANE Select	NP_002283.3:p.Gln1488Leu