Canonical Allele Identifier: CA3994891

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505336C>G , CM000668.2:g.129505336C>G	GRCh38
NC_000006.11:g.129826481C>G , CM000668.1:g.129826481C>G	GRCh37
NC_000006.10:g.129868174C>G	NCBI36
NG_008678.1:g.627196C>G , LRG_409:g.627196C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8684C>G MANE Select	NP_000417.3:p.Thr2895Ser
ENST00000421865.3:c.8684C>G MANE Select	ENSP00000400365.2:p.Thr2895Ser
NM_000426.3:c.8684C>G , LRG_409t1:c.8684C>G	NP_000417.2:p.Thr2895Ser
NM_001079823.1:c.8672C>G	NP_001073291.1:p.Thr2891Ser
NM_001079823.2:c.8672C>G	NP_001073291.2:p.Thr2891Ser
ENST00000421865.2:c.8684C>G	ENSP00000400365.2:p.Thr2895Ser
ENST00000494137.2:c.749C>G	ENSP00000510626.1:p.Thr250Ser
ENST00000498257.6:c.749C>G	ENSP00000510533.1:p.Thr250Ser
ENST00000617695.4:c.8672C>G	ENSP00000481744.1:p.Thr2891Ser
ENST00000617695.5:c.8672C>G	ENSP00000481744.2:p.Thr2891Ser
ENST00000618192.4:c.8681C>G	ENSP00000480802.1:p.Thr2894Ser
ENST00000618192.5:c.8948C>G	ENSP00000480802.2:p.Thr2983Ser
ENST00000688198.1:n.1662C>G
ENST00000688799.1:c.749C>G	ENSP00000508458.1:p.Thr250Ser
ENST00000690858.1:n.1678C>G
ENST00000693461.1:n.1021C>G
XM_005266981.2:c.8948C>G	XP_005267038.1:p.Thr2983Ser
XM_005266981.3:c.8948C>G	XP_005267038.1:p.Thr2983Ser
XM_005266982.2:c.8936C>G	XP_005267039.1:p.Thr2979Ser
XM_005266982.3:c.8936C>G	XP_005267039.1:p.Thr2979Ser
XM_011535820.1:c.8942C>G	XP_011534122.1:p.Thr2981Ser
XM_011535820.2:c.8942C>G	XP_011534122.1:p.Thr2981Ser
XM_017010851.2:c.8954C>G	XP_016866340.1:p.Thr2985Ser
XM_017010852.1:c.7079C>G	XP_016866341.1:p.Thr2360Ser
XR_001743859.1:n.3901-2545G>C
XR_001743860.1:n.1180-2545G>C
XR_001743861.1:n.1347-2545G>C
XR_001743863.1:n.883-2545G>C
XR_002956395.1:n.9132-2545G>C
XR_002956396.1:n.3127-2545G>C
XR_942984.1:n.1461-2545G>C
XR_942985.1:n.1325-2545G>C