Canonical Allele Identifier: CA365634189

Gene: LAMA2

Linked Data - Variant Effect Evidence

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.530T>A	ENSP00000510626.1:p.Leu177Ter
ENST00000498257.6:c.530T>A	ENSP00000510533.1:p.Leu177Ter
ENST00000617695.5:c.8453T>A	ENSP00000481744.2:p.Leu2818Ter
ENST00000618192.5:c.8729T>A	ENSP00000480802.2:p.Leu2910Ter
ENST00000688198.1:n.1443T>A
ENST00000688799.1:c.530T>A	ENSP00000508458.1:p.Leu177Ter
ENST00000690858.1:n.1459T>A
ENST00000693461.1:n.802T>A
ENST00000421865.3:c.8465T>A MANE Select	ENSP00000400365.2:p.Leu2822Ter
ENST00000421865.2:c.8465T>A	ENSP00000400365.2:p.Leu2822Ter
ENST00000617695.4:c.8453T>A	ENSP00000481744.1:p.Leu2818Ter
ENST00000618192.4:c.8462T>A	ENSP00000480802.1:p.Leu2821Ter
NM_000426.3:c.8465T>A , LRG_409t1:c.8465T>A	NP_000417.2:p.Leu2822Ter
NM_001079823.1:c.8453T>A	NP_001073291.1:p.Leu2818Ter
XM_005266981.2:c.8729T>A	XP_005267038.1:p.Leu2910Ter
XM_005266982.2:c.8717T>A	XP_005267039.1:p.Leu2906Ter
XM_011535820.1:c.8723T>A	XP_011534122.1:p.Leu2908Ter
XR_942984.1:n.1461-407A>T
XR_942985.1:n.1325-407A>T
XM_005266981.3:c.8729T>A	XP_005267038.1:p.Leu2910Ter
XM_005266982.3:c.8717T>A	XP_005267039.1:p.Leu2906Ter
XM_011535820.2:c.8723T>A	XP_011534122.1:p.Leu2908Ter
XM_017010851.2:c.8735T>A	XP_016866340.1:p.Leu2912Ter
XM_017010852.1:c.6860T>A	XP_016866341.1:p.Leu2287Ter
XR_001743859.1:n.3901-407A>T
XR_001743860.1:n.1180-407A>T
XR_001743861.1:n.1347-407A>T
XR_001743863.1:n.883-407A>T
XR_002956395.1:n.9132-407A>T
XR_002956396.1:n.3127-407A>T
NM_000426.4:c.8465T>A MANE Select	NP_000417.3:p.Leu2822Ter
NM_001079823.2:c.8453T>A	NP_001073291.2:p.Leu2818Ter