Canonical Allele Identifier: CA3994909

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129507519A>G , CM000668.2:g.129507519A>G	GRCh38
NC_000006.11:g.129828664A>G , CM000668.1:g.129828664A>G	GRCh37
NC_000006.10:g.129870357A>G	NCBI36
NG_008678.1:g.629379A>G , LRG_409:g.629379A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8734A>G MANE Select	NP_000417.3:p.Asn2912Asp
ENST00000421865.3:c.8734A>G MANE Select	ENSP00000400365.2:p.Asn2912Asp
NM_000426.3:c.8734A>G , LRG_409t1:c.8734A>G	NP_000417.2:p.Asn2912Asp
NM_001079823.1:c.8722A>G	NP_001073291.1:p.Asn2908Asp
NM_001079823.2:c.8722A>G	NP_001073291.2:p.Asn2908Asp
ENST00000421865.2:c.8734A>G	ENSP00000400365.2:p.Asn2912Asp
ENST00000494137.2:c.799A>G	ENSP00000510626.1:p.Asn267Asp
ENST00000498257.6:c.799A>G	ENSP00000510533.1:p.Asn267Asp
ENST00000617695.4:c.8722A>G	ENSP00000481744.1:p.Asn2908Asp
ENST00000617695.5:c.8722A>G	ENSP00000481744.2:p.Asn2908Asp
ENST00000618192.4:c.8731A>G	ENSP00000480802.1:p.Asn2911Asp
ENST00000618192.5:c.8998A>G	ENSP00000480802.2:p.Asn3000Asp
ENST00000688198.1:n.1712A>G
ENST00000688799.1:c.799A>G	ENSP00000508458.1:p.Asn267Asp
ENST00000690858.1:n.1728A>G
ENST00000693461.1:n.1071A>G
XM_005266981.2:c.8998A>G	XP_005267038.1:p.Asn3000Asp
XM_005266981.3:c.8998A>G	XP_005267038.1:p.Asn3000Asp
XM_005266982.2:c.8986A>G	XP_005267039.1:p.Asn2996Asp
XM_005266982.3:c.8986A>G	XP_005267039.1:p.Asn2996Asp
XM_011535820.1:c.8992A>G	XP_011534122.1:p.Asn2998Asp
XM_011535820.2:c.8992A>G	XP_011534122.1:p.Asn2998Asp
XM_017010851.2:c.9004A>G	XP_016866340.1:p.Asn3002Asp
XM_017010852.1:c.7129A>G	XP_016866341.1:p.Asn2377Asp
XR_001743859.1:n.3901-4728T>C
XR_001743860.1:n.1180-4728T>C
XR_001743861.1:n.1347-4728T>C
XR_001743863.1:n.883-4728T>C
XR_002956395.1:n.9132-4728T>C
XR_002956396.1:n.3127-4728T>C
XR_942984.1:n.1461-4728T>C
XR_942985.1:n.1325-4728T>C