Canonical Allele Identifier: CA74489560

Gene: LAMB2

Linked Data

• dbSNP Id: rs1029500879
• gnomAD v3: 3-49131946-A-C
• gnomAD v4: 3-49131946-A-C
• MyVariant Identifiers: chr3:g.49169379A>C (hg19) ; chr3:g.49131946A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49131946A>C , CM000665.2:g.49131946A>C	GRCh38
NC_000003.11:g.49169379A>C , CM000665.1:g.49169379A>C	GRCh37
NC_000003.10:g.49144383A>C	NCBI36
NG_008094.1:g.6221T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.459+170T>G MANE Select	ENSP00000307156.4:n.459+170T>G
ENST00000305544.8:c.459+170T>G	ENSP00000307156.4:n.459+170T>G
ENST00000418109.5:c.459+170T>G	ENSP00000388325.1:n.459+170T>G
ENST00000494831.1:c.12+170T>G	ENSP00000444751.1:n.12+170T>G
NM_002292.3:c.459+170T>G	NP_002283.3:n.459+170T>G
XM_005265127.3:c.459+170T>G	XP_005265184.1:n.459+170T>G
XM_005265127.4:c.459+170T>G	XP_005265184.1:n.459+170T>G
NM_002292.4:c.459+170T>G MANE Select	NP_002283.3:n.459+170T>G