Canonical Allele Identifier: CA365634867

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129505273-A-G
• MyVariant Identifiers: chr6:g.129826418A>G (hg19) ; chr6:g.129505273A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505273A>G , CM000668.2:g.129505273A>G	GRCh38
NC_000006.11:g.129826418A>G , CM000668.1:g.129826418A>G	GRCh37
NC_000006.10:g.129868111A>G	NCBI36
NG_008678.1:g.627133A>G , LRG_409:g.627133A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.686A>G	ENSP00000510626.1:p.Lys229Arg
ENST00000498257.6:c.686A>G	ENSP00000510533.1:p.Lys229Arg
ENST00000617695.5:c.8609A>G	ENSP00000481744.2:p.Lys2870Arg
ENST00000618192.5:c.8885A>G	ENSP00000480802.2:p.Lys2962Arg
ENST00000688198.1:n.1599A>G
ENST00000688799.1:c.686A>G	ENSP00000508458.1:p.Lys229Arg
ENST00000690858.1:n.1615A>G
ENST00000693461.1:n.958A>G
ENST00000421865.3:c.8621A>G MANE Select	ENSP00000400365.2:p.Lys2874Arg
ENST00000421865.2:c.8621A>G	ENSP00000400365.2:p.Lys2874Arg
ENST00000617695.4:c.8609A>G	ENSP00000481744.1:p.Lys2870Arg
ENST00000618192.4:c.8618A>G	ENSP00000480802.1:p.Lys2873Arg
NM_000426.3:c.8621A>G , LRG_409t1:c.8621A>G	NP_000417.2:p.Lys2874Arg
NM_001079823.1:c.8609A>G	NP_001073291.1:p.Lys2870Arg
XM_005266981.2:c.8885A>G	XP_005267038.1:p.Lys2962Arg
XM_005266982.2:c.8873A>G	XP_005267039.1:p.Lys2958Arg
XM_011535820.1:c.8879A>G	XP_011534122.1:p.Lys2960Arg
XR_942984.1:n.1461-2482T>C
XR_942985.1:n.1325-2482T>C
XM_005266981.3:c.8885A>G	XP_005267038.1:p.Lys2962Arg
XM_005266982.3:c.8873A>G	XP_005267039.1:p.Lys2958Arg
XM_011535820.2:c.8879A>G	XP_011534122.1:p.Lys2960Arg
XM_017010851.2:c.8891A>G	XP_016866340.1:p.Lys2964Arg
XM_017010852.1:c.7016A>G	XP_016866341.1:p.Lys2339Arg
XR_001743859.1:n.3901-2482T>C
XR_001743860.1:n.1180-2482T>C
XR_001743861.1:n.1347-2482T>C
XR_001743863.1:n.883-2482T>C
XR_002956395.1:n.9132-2482T>C
XR_002956396.1:n.3127-2482T>C
NM_000426.4:c.8621A>G MANE Select	NP_000417.3:p.Lys2874Arg
NM_001079823.2:c.8609A>G	NP_001073291.2:p.Lys2870Arg