Canonical Allele Identifier: CA365634172

Gene: LAMA2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129503191A>G , CM000668.2:g.129503191A>G	GRCh38
NC_000006.11:g.129824336A>G , CM000668.1:g.129824336A>G	GRCh37
NC_000006.10:g.129866029A>G	NCBI36
NG_008678.1:g.625051A>G , LRG_409:g.625051A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.523A>G	ENSP00000510626.1:p.Asn175Asp
ENST00000498257.6:c.523A>G	ENSP00000510533.1:p.Asn175Asp
ENST00000617695.5:c.8446A>G	ENSP00000481744.2:p.Asn2816Asp
ENST00000618192.5:c.8722A>G	ENSP00000480802.2:p.Asn2908Asp
ENST00000688198.1:n.1436A>G
ENST00000688799.1:c.523A>G	ENSP00000508458.1:p.Asn175Asp
ENST00000690858.1:n.1452A>G
ENST00000693461.1:n.795A>G
ENST00000421865.3:c.8458A>G MANE Select	ENSP00000400365.2:p.Asn2820Asp
ENST00000421865.2:c.8458A>G	ENSP00000400365.2:p.Asn2820Asp
ENST00000617695.4:c.8446A>G	ENSP00000481744.1:p.Asn2816Asp
ENST00000618192.4:c.8455A>G	ENSP00000480802.1:p.Asn2819Asp
NM_000426.3:c.8458A>G , LRG_409t1:c.8458A>G	NP_000417.2:p.Asn2820Asp
NM_001079823.1:c.8446A>G	NP_001073291.1:p.Asn2816Asp
XM_005266981.2:c.8722A>G	XP_005267038.1:p.Asn2908Asp
XM_005266982.2:c.8710A>G	XP_005267039.1:p.Asn2904Asp
XM_011535820.1:c.8716A>G	XP_011534122.1:p.Asn2906Asp
XR_942984.1:n.1461-400T>C
XR_942985.1:n.1325-400T>C
XM_005266981.3:c.8722A>G	XP_005267038.1:p.Asn2908Asp
XM_005266982.3:c.8710A>G	XP_005267039.1:p.Asn2904Asp
XM_011535820.2:c.8716A>G	XP_011534122.1:p.Asn2906Asp
XM_017010851.2:c.8728A>G	XP_016866340.1:p.Asn2910Asp
XM_017010852.1:c.6853A>G	XP_016866341.1:p.Asn2285Asp
XR_001743859.1:n.3901-400T>C
XR_001743860.1:n.1180-400T>C
XR_001743861.1:n.1347-400T>C
XR_001743863.1:n.883-400T>C
XR_002956395.1:n.9132-400T>C
XR_002956396.1:n.3127-400T>C
NM_000426.4:c.8458A>G MANE Select	NP_000417.3:p.Asn2820Asp
NM_001079823.2:c.8446A>G	NP_001073291.2:p.Asn2816Asp