Canonical Allele Identifier: CA2680313390

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129297774-T-TGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129297775_129297777dup , CM000668.2:g.129297775_129297777dup	GRCh38
NC_000006.11:g.129618920_129618922dup , CM000668.1:g.129618920_129618922dup	GRCh37
NC_000006.10:g.129660613_129660615dup	NCBI36
NG_008678.1:g.419635_419637dup , LRG_409:g.419635_419637dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.2947_2949dup	ENSP00000481744.2:p.Gly983_Gln984insGly
ENST00000618192.5:c.3211_3213dup	ENSP00000480802.2:p.Gly1071_Gln1072insGly
ENST00000421865.3:c.2947_2949dup MANE Select	ENSP00000400365.2:p.Gly983_Gln984insGly
ENST00000645154.1:c.462_464dup
ENST00000421865.2:c.2947_2949dup	ENSP00000400365.2:p.Gly983_Gln984insGly
ENST00000617695.4:c.2947_2949dup	ENSP00000481744.1:p.Gly983_Gln984insGly
ENST00000618192.4:c.2947_2949dup	ENSP00000480802.1:p.Gly983_Gln984insGly
NM_000426.3:c.2947_2949dup , LRG_409t1:c.2947_2949dup	NP_000417.2:p.Gly983_Gln984insGly
NM_001079823.1:c.2947_2949dup	NP_001073291.1:p.Gly983_Gln984insGly
XM_005266981.2:c.3211_3213dup	XP_005267038.1:p.Gly1071_Gln1072insGly
XM_005266982.2:c.3211_3213dup	XP_005267039.1:p.Gly1071_Gln1072insGly
XM_011535820.1:c.3211_3213dup	XP_011534122.1:p.Gly1071_Gln1072insGly
XM_005266981.3:c.3211_3213dup	XP_005267038.1:p.Gly1071_Gln1072insGly
XM_005266982.3:c.3211_3213dup	XP_005267039.1:p.Gly1071_Gln1072insGly
XM_011535820.2:c.3211_3213dup	XP_011534122.1:p.Gly1071_Gln1072insGly
XM_017010851.2:c.3217_3219dup	XP_016866340.1:p.Gly1073_Gln1074insGly
XM_017010852.1:c.1342_1344dup	XP_016866341.1:p.Gly448_Gln449insGly
XM_017010853.1:c.3211_3213dup	XP_016866342.1:p.Gly1071_Gln1072insGly
NM_000426.4:c.2947_2949dup MANE Select	NP_000417.3:p.Gly983_Gln984insGly
NM_001079823.2:c.2947_2949dup	NP_001073291.2:p.Gly983_Gln984insGly