Canonical Allele Identifier: CA352747263

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 1494189
• ClinVar RCV Id: RCV001987058
• dbSNP Id: rs2107644271
• MyVariant Identifiers: chr3:g.49168474T>G (hg19) ; chr3:g.49131041T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49131041T>G , CM000665.2:g.49131041T>G	GRCh38
NC_000003.11:g.49168474T>G , CM000665.1:g.49168474T>G	GRCh37
NC_000003.10:g.49143478T>G	NCBI36
NG_008094.1:g.7126A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305544.9:c.824A>C MANE Select	ENSP00000307156.4:p.Tyr275Ser
ENST00000305544.8:c.824A>C	ENSP00000307156.4:p.Tyr275Ser
ENST00000418109.5:c.824A>C	ENSP00000388325.1:p.Tyr275Ser
ENST00000494831.1:c.377A>C	ENSP00000444751.1:p.Tyr126Ser
NM_002292.3:c.824A>C	NP_002283.3:p.Tyr275Ser
XM_005265127.3:c.824A>C	XP_005265184.1:p.Tyr275Ser
XM_005265127.4:c.824A>C	XP_005265184.1:p.Tyr275Ser
NM_002292.4:c.824A>C MANE Select	NP_002283.3:p.Tyr275Ser