Canonical Allele Identifier: CA2665699667
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49131964-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49131964C>G , CM000665.2:g.49131964C>G GRCh38
NC_000003.11:g.49169397C>G , CM000665.1:g.49169397C>G GRCh37
NC_000003.10:g.49144401C>G NCBI36
NG_008094.1:g.6203G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.459+152G>C MANE Select ENSP00000307156.4:n.459+152G>C
ENST00000305544.8:c.459+152G>C ENSP00000307156.4:n.459+152G>C
ENST00000418109.5:c.459+152G>C ENSP00000388325.1:n.459+152G>C
ENST00000494831.1:c.12+152G>C ENSP00000444751.1:n.12+152G>C
NM_002292.3:c.459+152G>C NP_002283.3:n.459+152G>C
XM_005265127.3:c.459+152G>C XP_005265184.1:n.459+152G>C
XM_005265127.4:c.459+152G>C XP_005265184.1:n.459+152G>C
NM_002292.4:c.459+152G>C MANE Select NP_002283.3:n.459+152G>C
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