Canonical Allele Identifier: CA3994133

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 355285
• ClinVar RCV Id: RCV000363181 ; RCV000654772 ; RCV004544663
• dbSNP Id: rs117884199
• ExAC: 6:129762081 A / G
• gnomAD v2: 6-129762081-A-G
• gnomAD v3: 6-129440936-A-G
• gnomAD v4: 6-129440936-A-G
• MyVariant Identifiers: chr6:g.129762081A>G (hg19) ; chr6:g.129440936A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129440936A>G , CM000668.2:g.129440936A>G	GRCh38
NC_000006.11:g.129762081A>G , CM000668.1:g.129762081A>G	GRCh37
NC_000006.10:g.129803774A>G	NCBI36
NG_008678.1:g.562796A>G , LRG_409:g.562796A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.6206A>G	ENSP00000481744.2:p.Tyr2069Cys
ENST00000618192.5:c.6470A>G	ENSP00000480802.2:p.Tyr2157Cys
ENST00000421865.3:c.6206A>G MANE Select	ENSP00000400365.2:p.Tyr2069Cys
ENST00000421865.2:c.6206A>G	ENSP00000400365.2:p.Tyr2069Cys
ENST00000617695.4:c.6206A>G	ENSP00000481744.1:p.Tyr2069Cys
ENST00000618192.4:c.6206A>G	ENSP00000480802.1:p.Tyr2069Cys
NM_000426.3:c.6206A>G , LRG_409t1:c.6206A>G	NP_000417.2:p.Tyr2069Cys
NM_001079823.1:c.6206A>G	NP_001073291.1:p.Tyr2069Cys
XM_005266981.2:c.6470A>G	XP_005267038.1:p.Tyr2157Cys
XM_005266982.2:c.6470A>G	XP_005267039.1:p.Tyr2157Cys
XM_011535820.1:c.6470A>G	XP_011534122.1:p.Tyr2157Cys
XM_005266981.3:c.6470A>G	XP_005267038.1:p.Tyr2157Cys
XM_005266982.3:c.6470A>G	XP_005267039.1:p.Tyr2157Cys
XM_011535820.2:c.6470A>G	XP_011534122.1:p.Tyr2157Cys
XM_017010851.2:c.6476A>G	XP_016866340.1:p.Tyr2159Cys
XM_017010852.1:c.4601A>G	XP_016866341.1:p.Tyr1534Cys
NM_000426.4:c.6206A>G MANE Select	NP_000417.3:p.Tyr2069Cys
NM_001079823.2:c.6206A>G	NP_001073291.2:p.Tyr2069Cys