Canonical Allele Identifier: CA543048545

Gene: LAMB2

Linked Data

• gnomAD v2: 3-49160312-T-TAAAAA
• gnomAD v4: 3-49122879-T-TAAAAA
• MyVariant Identifiers: chr3:g.49160312_49160313insAAAAA (hg19) ; chr3:g.49122879_49122880insAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122879_49122880insAAAAA , CM000665.2:g.49122879_49122880insAAAAA	GRCh38
NC_000003.11:g.49160312_49160313insAAAAA , CM000665.1:g.49160312_49160313insAAAAA	GRCh37
NC_000003.10:g.49135316_49135317insAAAAA	NCBI36
NG_008094.1:g.15287_15288insTTTTT
NG_054716.1:g.3059_3060insTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4397_4398insTTTTT MANE Select	ENSP00000307156.4:p.Leu1467PhefsTer?
ENST00000305544.8:c.4397_4398insTTTTT	ENSP00000307156.4:p.Leu1467PhefsTer?
ENST00000418109.5:c.4397_4398insTTTTT	ENSP00000388325.1:p.Leu1467PhefsTer?
ENST00000469665.1:n.706_707insTTTTT
NM_002292.3:c.4397_4398insTTTTT	NP_002283.3:p.Leu1467PhefsTer?
XM_005265127.3:c.4397_4398insTTTTT	XP_005265184.1:p.Leu1467PhefsTer?
XM_005265127.4:c.4397_4398insTTTTT	XP_005265184.1:p.Leu1467PhefsTer?
NM_002292.4:c.4397_4398insTTTTT MANE Select	NP_002283.3:p.Leu1467PhefsTer?