Canonical Allele Identifier: CA433636257
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49130837-T-C
MyVariant Identifiers: chr3:g.49168270T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130837T>C , CM000665.2:g.49130837T>C GRCh38
NC_000003.11:g.49168270T>C , CM000665.1:g.49168270T>C GRCh37
NC_000003.10:g.49143274T>C NCBI36
NG_008094.1:g.7330A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.939A>G MANE Select ENSP00000307156.4:p.Lys313=
ENST00000305544.8:c.939A>G ENSP00000307156.4:p.Lys313=
ENST00000418109.5:c.939A>G ENSP00000388325.1:p.Lys313=
NM_002292.3:c.939A>G NP_002283.3:p.Lys313=
XM_005265127.3:c.939A>G XP_005265184.1:p.Lys313=
XM_005265127.4:c.939A>G XP_005265184.1:p.Lys313=
NM_002292.4:c.939A>G MANE Select NP_002283.3:p.Lys313=
Search 100 bp 5'
Search 100 bp 3'