Canonical Allele Identifier: CA352745735

Gene: LAMB2

Linked Data

• dbSNP Id: rs1450049072
• gnomAD v2: 3-49168272-T-C
• MyVariant Identifiers: chr3:g.49168272T>C (hg19) ; chr3:g.49130839T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49130839T>C , CM000665.2:g.49130839T>C	GRCh38
NC_000003.11:g.49168272T>C , CM000665.1:g.49168272T>C	GRCh37
NC_000003.10:g.49143276T>C	NCBI36
NG_008094.1:g.7328A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.937A>G MANE Select	ENSP00000307156.4:p.Lys313Glu
ENST00000305544.8:c.937A>G	ENSP00000307156.4:p.Lys313Glu
ENST00000418109.5:c.937A>G	ENSP00000388325.1:p.Lys313Glu
NM_002292.3:c.937A>G	NP_002283.3:p.Lys313Glu
XM_005265127.3:c.937A>G	XP_005265184.1:p.Lys313Glu
XM_005265127.4:c.937A>G	XP_005265184.1:p.Lys313Glu
NM_002292.4:c.937A>G MANE Select	NP_002283.3:p.Lys313Glu