Canonical Allele Identifier: CA365637234

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129837359C>T (hg19) ; chr6:g.129516214C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129516214C>T , CM000668.2:g.129516214C>T	GRCh38
NC_000006.11:g.129837359C>T , CM000668.1:g.129837359C>T	GRCh37
NC_000006.10:g.129879052C>T	NCBI36
NG_008678.1:g.638074C>T , LRG_409:g.638074C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.1301C>T	ENSP00000510626.1:p.Thr434Ile
ENST00000498257.6:c.1301C>T	ENSP00000510533.1:p.Thr434Ile
ENST00000617695.5:c.9224C>T	ENSP00000481744.2:p.Thr3075Ile
ENST00000618192.5:c.9500C>T	ENSP00000480802.2:p.Thr3167Ile
ENST00000688198.1:n.2214C>T
ENST00000688799.1:c.1301C>T	ENSP00000508458.1:p.Thr434Ile
ENST00000690858.1:n.4109C>T
ENST00000693461.1:n.1573C>T
ENST00000421865.3:c.9236C>T MANE Select	ENSP00000400365.2:p.Thr3079Ile
ENST00000421865.2:c.9236C>T	ENSP00000400365.2:p.Thr3079Ile
ENST00000617695.4:c.9224C>T	ENSP00000481744.1:p.Thr3075Ile
ENST00000618192.4:c.9233C>T	ENSP00000480802.1:p.Thr3078Ile
NM_000426.3:c.9236C>T , LRG_409t1:c.9236C>T	NP_000417.2:p.Thr3079Ile
NM_001079823.1:c.9224C>T	NP_001073291.1:p.Thr3075Ile
XM_005266981.2:c.9500C>T	XP_005267038.1:p.Thr3167Ile
XM_005266982.2:c.9488C>T	XP_005267039.1:p.Thr3163Ile
XM_011535820.1:c.9494C>T	XP_011534122.1:p.Thr3165Ile
XR_942984.1:n.1460+6263G>A
XR_942985.1:n.1324+6263G>A
XM_005266981.3:c.9500C>T	XP_005267038.1:p.Thr3167Ile
XM_005266982.3:c.9488C>T	XP_005267039.1:p.Thr3163Ile
XM_011535820.2:c.9494C>T	XP_011534122.1:p.Thr3165Ile
XM_017010851.2:c.9506C>T	XP_016866340.1:p.Thr3169Ile
XM_017010852.1:c.7631C>T	XP_016866341.1:p.Thr2544Ile
XR_001743859.1:n.3900+6263G>A
XR_001743860.1:n.1179+6263G>A
XR_001743861.1:n.1346+6263G>A
XR_001743863.1:n.883-13423G>A
XR_002956395.1:n.9131+6263G>A
XR_002956396.1:n.3126+6263G>A
NM_000426.4:c.9236C>T MANE Select	NP_000417.3:p.Thr3079Ile
NM_001079823.2:c.9224C>T	NP_001073291.2:p.Thr3075Ile