Canonical Allele Identifier: CA365634178

Gene: LAMA2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129503193T>G , CM000668.2:g.129503193T>G	GRCh38
NC_000006.11:g.129824338T>G , CM000668.1:g.129824338T>G	GRCh37
NC_000006.10:g.129866031T>G	NCBI36
NG_008678.1:g.625053T>G , LRG_409:g.625053T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.525T>G	ENSP00000510626.1:p.Asn175Lys
ENST00000498257.6:c.525T>G	ENSP00000510533.1:p.Asn175Lys
ENST00000617695.5:c.8448T>G	ENSP00000481744.2:p.Asn2816Lys
ENST00000618192.5:c.8724T>G	ENSP00000480802.2:p.Asn2908Lys
ENST00000688198.1:n.1438T>G
ENST00000688799.1:c.525T>G	ENSP00000508458.1:p.Asn175Lys
ENST00000690858.1:n.1454T>G
ENST00000693461.1:n.797T>G
ENST00000421865.3:c.8460T>G MANE Select	ENSP00000400365.2:p.Asn2820Lys
ENST00000421865.2:c.8460T>G	ENSP00000400365.2:p.Asn2820Lys
ENST00000617695.4:c.8448T>G	ENSP00000481744.1:p.Asn2816Lys
ENST00000618192.4:c.8457T>G	ENSP00000480802.1:p.Asn2819Lys
NM_000426.3:c.8460T>G , LRG_409t1:c.8460T>G	NP_000417.2:p.Asn2820Lys
NM_001079823.1:c.8448T>G	NP_001073291.1:p.Asn2816Lys
XM_005266981.2:c.8724T>G	XP_005267038.1:p.Asn2908Lys
XM_005266982.2:c.8712T>G	XP_005267039.1:p.Asn2904Lys
XM_011535820.1:c.8718T>G	XP_011534122.1:p.Asn2906Lys
XR_942984.1:n.1461-402A>C
XR_942985.1:n.1325-402A>C
XM_005266981.3:c.8724T>G	XP_005267038.1:p.Asn2908Lys
XM_005266982.3:c.8712T>G	XP_005267039.1:p.Asn2904Lys
XM_011535820.2:c.8718T>G	XP_011534122.1:p.Asn2906Lys
XM_017010851.2:c.8730T>G	XP_016866340.1:p.Asn2910Lys
XM_017010852.1:c.6855T>G	XP_016866341.1:p.Asn2285Lys
XR_001743859.1:n.3901-402A>C
XR_001743860.1:n.1180-402A>C
XR_001743861.1:n.1347-402A>C
XR_001743863.1:n.883-402A>C
XR_002956395.1:n.9132-402A>C
XR_002956396.1:n.3127-402A>C
NM_000426.4:c.8460T>G MANE Select	NP_000417.3:p.Asn2820Lys
NM_001079823.2:c.8448T>G	NP_001073291.2:p.Asn2816Lys