Canonical Allele Identifier: CA3995015

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129514398C>T , CM000668.2:g.129514398C>T	GRCh38
NC_000006.11:g.129835543C>T , CM000668.1:g.129835543C>T	GRCh37
NC_000006.10:g.129877236C>T	NCBI36
NG_008678.1:g.636258C>T , LRG_409:g.636258C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.9014C>T MANE Select	NP_000417.3:p.Ala3005Val
ENST00000421865.3:c.9014C>T MANE Select	ENSP00000400365.2:p.Ala3005Val
NM_000426.3:c.9014C>T , LRG_409t1:c.9014C>T	NP_000417.2:p.Ala3005Val
NM_001079823.1:c.9002C>T	NP_001073291.1:p.Ala3001Val
NM_001079823.2:c.9002C>T	NP_001073291.2:p.Ala3001Val
ENST00000421865.2:c.9014C>T	ENSP00000400365.2:p.Ala3005Val
ENST00000494137.2:c.1079C>T	ENSP00000510626.1:p.Ala360Val
ENST00000498257.6:c.1079C>T	ENSP00000510533.1:p.Ala360Val
ENST00000617695.4:c.9002C>T	ENSP00000481744.1:p.Ala3001Val
ENST00000617695.5:c.9002C>T	ENSP00000481744.2:p.Ala3001Val
ENST00000618192.4:c.9011C>T	ENSP00000480802.1:p.Ala3004Val
ENST00000618192.5:c.9278C>T	ENSP00000480802.2:p.Ala3093Val
ENST00000688198.1:n.1992C>T
ENST00000688799.1:c.1079C>T	ENSP00000508458.1:p.Ala360Val
ENST00000690858.1:n.3887C>T
ENST00000693461.1:n.1351C>T
XM_005266981.2:c.9278C>T	XP_005267038.1:p.Ala3093Val
XM_005266981.3:c.9278C>T	XP_005267038.1:p.Ala3093Val
XM_005266982.2:c.9266C>T	XP_005267039.1:p.Ala3089Val
XM_005266982.3:c.9266C>T	XP_005267039.1:p.Ala3089Val
XM_011535820.1:c.9272C>T	XP_011534122.1:p.Ala3091Val
XM_011535820.2:c.9272C>T	XP_011534122.1:p.Ala3091Val
XM_017010851.2:c.9284C>T	XP_016866340.1:p.Ala3095Val
XM_017010852.1:c.7409C>T	XP_016866341.1:p.Ala2470Val
XR_001743859.1:n.3900+8079G>A
XR_001743860.1:n.1179+8079G>A
XR_001743861.1:n.1346+8079G>A
XR_001743863.1:n.883-11607G>A
XR_002956395.1:n.9131+8079G>A
XR_002956396.1:n.3126+8079G>A
XR_942984.1:n.1460+8079G>A
XR_942985.1:n.1324+8079G>A