Canonical Allele Identifier: CA352693539

Gene: LAMB2

Linked Data

• MyVariant Identifiers: chr3:g.49160329C>A (hg19) ; chr3:g.49122896C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122896C>A , CM000665.2:g.49122896C>A	GRCh38
NC_000003.11:g.49160329C>A , CM000665.1:g.49160329C>A	GRCh37
NC_000003.10:g.49135333C>A	NCBI36
NG_008094.1:g.15271G>T
NG_054716.1:g.3043G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4381G>T MANE Select	ENSP00000307156.4:p.Ala1461Ser
ENST00000305544.8:c.4381G>T	ENSP00000307156.4:p.Ala1461Ser
ENST00000418109.5:c.4381G>T	ENSP00000388325.1:p.Ala1461Ser
ENST00000469665.1:n.690G>T
NM_002292.3:c.4381G>T	NP_002283.3:p.Ala1461Ser
XM_005265127.3:c.4381G>T	XP_005265184.1:p.Ala1461Ser
XM_005265127.4:c.4381G>T	XP_005265184.1:p.Ala1461Ser
NM_002292.4:c.4381G>T MANE Select	NP_002283.3:p.Ala1461Ser