Canonical Allele Identifier: CA352748549

Gene: LAMB2

Linked Data

• dbSNP Id: rs1182496769
• gnomAD v2: 3-49168574-T-A
• gnomAD v4: 3-49131141-T-A
• MyVariant Identifiers: chr3:g.49168574T>A (hg19) ; chr3:g.49131141T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49131141T>A , CM000665.2:g.49131141T>A	GRCh38
NC_000003.11:g.49168574T>A , CM000665.1:g.49168574T>A	GRCh37
NC_000003.10:g.49143578T>A	NCBI36
NG_008094.1:g.7026A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305544.9:c.724A>T MANE Select	ENSP00000307156.4:p.Ile242Phe
ENST00000305544.8:c.724A>T	ENSP00000307156.4:p.Ile242Phe
ENST00000418109.5:c.724A>T	ENSP00000388325.1:p.Ile242Phe
ENST00000494831.1:c.277A>T	ENSP00000444751.1:p.Ile93Phe
NM_002292.3:c.724A>T	NP_002283.3:p.Ile242Phe
XM_005265127.3:c.724A>T	XP_005265184.1:p.Ile242Phe
XM_005265127.4:c.724A>T	XP_005265184.1:p.Ile242Phe
NM_002292.4:c.724A>T MANE Select	NP_002283.3:p.Ile242Phe