Canonical Allele Identifier: CA2394791

Gene: LAMB2

Linked Data

• dbSNP Id: rs769460144
• ExAC: 3:49168473 A / T
• gnomAD v2: 3-49168473-A-T
• gnomAD v4: 3-49131040-A-T
• MyVariant Identifiers: chr3:g.49168473A>T (hg19) ; chr3:g.49131040A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49131040A>T , CM000665.2:g.49131040A>T	GRCh38
NC_000003.11:g.49168473A>T , CM000665.1:g.49168473A>T	GRCh37
NC_000003.10:g.49143477A>T	NCBI36
NG_008094.1:g.7127T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000305544.9:c.825T>A MANE Select	ENSP00000307156.4:p.Tyr275Ter
ENST00000305544.8:c.825T>A	ENSP00000307156.4:p.Tyr275Ter
ENST00000418109.5:c.825T>A	ENSP00000388325.1:p.Tyr275Ter
ENST00000494831.1:c.378T>A	ENSP00000444751.1:p.Tyr126Ter
NM_002292.3:c.825T>A	NP_002283.3:p.Tyr275Ter
XM_005265127.3:c.825T>A	XP_005265184.1:p.Tyr275Ter
XM_005265127.4:c.825T>A	XP_005265184.1:p.Tyr275Ter
NM_002292.4:c.825T>A MANE Select	NP_002283.3:p.Tyr275Ter