Canonical Allele Identifier: CA3994391

Gene: LAMA2

Linked Data

• dbSNP Id: rs770852976
• ExAC: 6:129781375 A / G
• gnomAD v2: 6-129781375-A-G
• gnomAD v4: 6-129460230-A-G
• MyVariant Identifiers: chr6:g.129781375A>G (hg19) ; chr6:g.129460230A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129460230A>G , CM000668.2:g.129460230A>G	GRCh38
NC_000006.11:g.129781375A>G , CM000668.1:g.129781375A>G	GRCh37
NC_000006.10:g.129823068A>G	NCBI36
NG_008678.1:g.582090A>G , LRG_409:g.582090A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.6898A>G	ENSP00000481744.2:p.Thr2300Ala
ENST00000618192.5:c.7162A>G	ENSP00000480802.2:p.Thr2388Ala
ENST00000684985.1:n.529A>G
ENST00000688150.1:n.237A>G
ENST00000421865.3:c.6898A>G MANE Select	ENSP00000400365.2:p.Thr2300Ala
ENST00000421865.2:c.6898A>G	ENSP00000400365.2:p.Thr2300Ala
ENST00000617695.4:c.6898A>G	ENSP00000481744.1:p.Thr2300Ala
ENST00000618192.4:c.6895A>G	ENSP00000480802.1:p.Thr2299Ala
NM_000426.3:c.6898A>G , LRG_409t1:c.6898A>G	NP_000417.2:p.Thr2300Ala
NM_001079823.1:c.6898A>G	NP_001073291.1:p.Thr2300Ala
XM_005266981.2:c.7162A>G	XP_005267038.1:p.Thr2388Ala
XM_005266982.2:c.7162A>G	XP_005267039.1:p.Thr2388Ala
XM_011535820.1:c.7156A>G	XP_011534122.1:p.Thr2386Ala
XM_005266981.3:c.7162A>G	XP_005267038.1:p.Thr2388Ala
XM_005266982.3:c.7162A>G	XP_005267039.1:p.Thr2388Ala
XM_011535820.2:c.7156A>G	XP_011534122.1:p.Thr2386Ala
XM_017010851.2:c.7168A>G	XP_016866340.1:p.Thr2390Ala
XM_017010852.1:c.5293A>G	XP_016866341.1:p.Thr1765Ala
NM_000426.4:c.6898A>G MANE Select	NP_000417.3:p.Thr2300Ala
NM_001079823.2:c.6898A>G	NP_001073291.2:p.Thr2300Ala