Canonical Allele Identifier: CA3994847

Gene: LAMA2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129503257A>G , CM000668.2:g.129503257A>G	GRCh38
NC_000006.11:g.129824402A>G , CM000668.1:g.129824402A>G	GRCh37
NC_000006.10:g.129866095A>G	NCBI36
NG_008678.1:g.625117A>G , LRG_409:g.625117A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.589A>G	ENSP00000510626.1:p.Ile197Val
ENST00000498257.6:c.589A>G	ENSP00000510533.1:p.Ile197Val
ENST00000617695.5:c.8512A>G	ENSP00000481744.2:p.Ile2838Val
ENST00000618192.5:c.8788A>G	ENSP00000480802.2:p.Ile2930Val
ENST00000688198.1:n.1502A>G
ENST00000688799.1:c.589A>G	ENSP00000508458.1:p.Ile197Val
ENST00000690858.1:n.1518A>G
ENST00000693461.1:n.861A>G
ENST00000421865.3:c.8524A>G MANE Select	ENSP00000400365.2:p.Ile2842Val
ENST00000421865.2:c.8524A>G	ENSP00000400365.2:p.Ile2842Val
ENST00000617695.4:c.8512A>G	ENSP00000481744.1:p.Ile2838Val
ENST00000618192.4:c.8521A>G	ENSP00000480802.1:p.Ile2841Val
NM_000426.3:c.8524A>G , LRG_409t1:c.8524A>G	NP_000417.2:p.Ile2842Val
NM_001079823.1:c.8512A>G	NP_001073291.1:p.Ile2838Val
XM_005266981.2:c.8788A>G	XP_005267038.1:p.Ile2930Val
XM_005266982.2:c.8776A>G	XP_005267039.1:p.Ile2926Val
XM_011535820.1:c.8782A>G	XP_011534122.1:p.Ile2928Val
XR_942984.1:n.1461-466T>C
XR_942985.1:n.1325-466T>C
XM_005266981.3:c.8788A>G	XP_005267038.1:p.Ile2930Val
XM_005266982.3:c.8776A>G	XP_005267039.1:p.Ile2926Val
XM_011535820.2:c.8782A>G	XP_011534122.1:p.Ile2928Val
XM_017010851.2:c.8794A>G	XP_016866340.1:p.Ile2932Val
XM_017010852.1:c.6919A>G	XP_016866341.1:p.Ile2307Val
XR_001743859.1:n.3901-466T>C
XR_001743860.1:n.1180-466T>C
XR_001743861.1:n.1347-466T>C
XR_001743863.1:n.883-466T>C
XR_002956395.1:n.9132-466T>C
XR_002956396.1:n.3127-466T>C
NM_000426.4:c.8524A>G MANE Select	NP_000417.3:p.Ile2842Val
NM_001079823.2:c.8512A>G	NP_001073291.2:p.Ile2838Val