Canonical Allele Identifier: CA2740094406

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 2950413
• ClinVar RCV Id: RCV003809723

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49130722G>A , CM000665.2:g.49130722G>A	GRCh38
NC_000003.11:g.49168155G>A , CM000665.1:g.49168155G>A	GRCh37
NC_000003.10:g.49143159G>A	NCBI36
NG_008094.1:g.7445C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305544.9:c.1036+18C>T MANE Select	ENSP00000307156.4:n.1036+18C>T
ENST00000305544.8:c.1036+18C>T	ENSP00000307156.4:n.1036+18C>T
ENST00000418109.5:c.1036+18C>T	ENSP00000388325.1:n.1036+18C>T
NM_002292.3:c.1036+18C>T	NP_002283.3:n.1036+18C>T
XM_005265127.3:c.1036+18C>T	XP_005265184.1:n.1036+18C>T
XM_005265127.4:c.1036+18C>T	XP_005265184.1:n.1036+18C>T
NM_002292.4:c.1036+18C>T MANE Select	NP_002283.3:n.1036+18C>T