Canonical Allele Identifier: CA365634175

Gene: LAMA2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129503192A>G , CM000668.2:g.129503192A>G	GRCh38
NC_000006.11:g.129824337A>G , CM000668.1:g.129824337A>G	GRCh37
NC_000006.10:g.129866030A>G	NCBI36
NG_008678.1:g.625052A>G , LRG_409:g.625052A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.524A>G	ENSP00000510626.1:p.Asn175Ser
ENST00000498257.6:c.524A>G	ENSP00000510533.1:p.Asn175Ser
ENST00000617695.5:c.8447A>G	ENSP00000481744.2:p.Asn2816Ser
ENST00000618192.5:c.8723A>G	ENSP00000480802.2:p.Asn2908Ser
ENST00000688198.1:n.1437A>G
ENST00000688799.1:c.524A>G	ENSP00000508458.1:p.Asn175Ser
ENST00000690858.1:n.1453A>G
ENST00000693461.1:n.796A>G
ENST00000421865.3:c.8459A>G MANE Select	ENSP00000400365.2:p.Asn2820Ser
ENST00000421865.2:c.8459A>G	ENSP00000400365.2:p.Asn2820Ser
ENST00000617695.4:c.8447A>G	ENSP00000481744.1:p.Asn2816Ser
ENST00000618192.4:c.8456A>G	ENSP00000480802.1:p.Asn2819Ser
NM_000426.3:c.8459A>G , LRG_409t1:c.8459A>G	NP_000417.2:p.Asn2820Ser
NM_001079823.1:c.8447A>G	NP_001073291.1:p.Asn2816Ser
XM_005266981.2:c.8723A>G	XP_005267038.1:p.Asn2908Ser
XM_005266982.2:c.8711A>G	XP_005267039.1:p.Asn2904Ser
XM_011535820.1:c.8717A>G	XP_011534122.1:p.Asn2906Ser
XR_942984.1:n.1461-401T>C
XR_942985.1:n.1325-401T>C
XM_005266981.3:c.8723A>G	XP_005267038.1:p.Asn2908Ser
XM_005266982.3:c.8711A>G	XP_005267039.1:p.Asn2904Ser
XM_011535820.2:c.8717A>G	XP_011534122.1:p.Asn2906Ser
XM_017010851.2:c.8729A>G	XP_016866340.1:p.Asn2910Ser
XM_017010852.1:c.6854A>G	XP_016866341.1:p.Asn2285Ser
XR_001743859.1:n.3901-401T>C
XR_001743860.1:n.1180-401T>C
XR_001743861.1:n.1347-401T>C
XR_001743863.1:n.883-401T>C
XR_002956395.1:n.9132-401T>C
XR_002956396.1:n.3127-401T>C
NM_000426.4:c.8459A>G MANE Select	NP_000417.3:p.Asn2820Ser
NM_001079823.2:c.8447A>G	NP_001073291.2:p.Asn2816Ser