Canonical Allele Identifier: CA365634188

Gene: LAMA2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129503198T>G , CM000668.2:g.129503198T>G	GRCh38
NC_000006.11:g.129824343T>G , CM000668.1:g.129824343T>G	GRCh37
NC_000006.10:g.129866036T>G	NCBI36
NG_008678.1:g.625058T>G , LRG_409:g.625058T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.530T>G	ENSP00000510626.1:p.Leu177Trp
ENST00000498257.6:c.530T>G	ENSP00000510533.1:p.Leu177Trp
ENST00000617695.5:c.8453T>G	ENSP00000481744.2:p.Leu2818Trp
ENST00000618192.5:c.8729T>G	ENSP00000480802.2:p.Leu2910Trp
ENST00000688198.1:n.1443T>G
ENST00000688799.1:c.530T>G	ENSP00000508458.1:p.Leu177Trp
ENST00000690858.1:n.1459T>G
ENST00000693461.1:n.802T>G
ENST00000421865.3:c.8465T>G MANE Select	ENSP00000400365.2:p.Leu2822Trp
ENST00000421865.2:c.8465T>G	ENSP00000400365.2:p.Leu2822Trp
ENST00000617695.4:c.8453T>G	ENSP00000481744.1:p.Leu2818Trp
ENST00000618192.4:c.8462T>G	ENSP00000480802.1:p.Leu2821Trp
NM_000426.3:c.8465T>G , LRG_409t1:c.8465T>G	NP_000417.2:p.Leu2822Trp
NM_001079823.1:c.8453T>G	NP_001073291.1:p.Leu2818Trp
XM_005266981.2:c.8729T>G	XP_005267038.1:p.Leu2910Trp
XM_005266982.2:c.8717T>G	XP_005267039.1:p.Leu2906Trp
XM_011535820.1:c.8723T>G	XP_011534122.1:p.Leu2908Trp
XR_942984.1:n.1461-407A>C
XR_942985.1:n.1325-407A>C
XM_005266981.3:c.8729T>G	XP_005267038.1:p.Leu2910Trp
XM_005266982.3:c.8717T>G	XP_005267039.1:p.Leu2906Trp
XM_011535820.2:c.8723T>G	XP_011534122.1:p.Leu2908Trp
XM_017010851.2:c.8735T>G	XP_016866340.1:p.Leu2912Trp
XM_017010852.1:c.6860T>G	XP_016866341.1:p.Leu2287Trp
XR_001743859.1:n.3901-407A>C
XR_001743860.1:n.1180-407A>C
XR_001743861.1:n.1347-407A>C
XR_001743863.1:n.883-407A>C
XR_002956395.1:n.9132-407A>C
XR_002956396.1:n.3127-407A>C
NM_000426.4:c.8465T>G MANE Select	NP_000417.3:p.Leu2822Trp
NM_001079823.2:c.8453T>G	NP_001073291.2:p.Leu2818Trp