Canonical Allele Identifier: CA11530848

Gene: LAMB2

Linked Data

• dbSNP Id: rs554746129
• gnomAD v2: 3-49169383-C-G
• gnomAD v3: 3-49131950-C-G
• gnomAD v4: 3-49131950-C-G
• MyVariant Identifiers: chr3:g.49169383C>G (hg19) ; chr3:g.49131950C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49131950C>G , CM000665.2:g.49131950C>G	GRCh38
NC_000003.11:g.49169383C>G , CM000665.1:g.49169383C>G	GRCh37
NC_000003.10:g.49144387C>G	NCBI36
NG_008094.1:g.6217G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305544.9:c.459+166G>C MANE Select	ENSP00000307156.4:n.459+166G>C
ENST00000305544.8:c.459+166G>C	ENSP00000307156.4:n.459+166G>C
ENST00000418109.5:c.459+166G>C	ENSP00000388325.1:n.459+166G>C
ENST00000494831.1:c.12+166G>C	ENSP00000444751.1:n.12+166G>C
NM_002292.3:c.459+166G>C	NP_002283.3:n.459+166G>C
XM_005265127.3:c.459+166G>C	XP_005265184.1:n.459+166G>C
XM_005265127.4:c.459+166G>C	XP_005265184.1:n.459+166G>C
NM_002292.4:c.459+166G>C MANE Select	NP_002283.3:n.459+166G>C