Canonical Allele Identifier: CA365635019

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505335A>T , CM000668.2:g.129505335A>T	GRCh38
NC_000006.11:g.129826480A>T , CM000668.1:g.129826480A>T	GRCh37
NC_000006.10:g.129868173A>T	NCBI36
NG_008678.1:g.627195A>T , LRG_409:g.627195A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8683A>T MANE Select	NP_000417.3:p.Thr2895Ser
ENST00000421865.3:c.8683A>T MANE Select	ENSP00000400365.2:p.Thr2895Ser
NM_000426.3:c.8683A>T , LRG_409t1:c.8683A>T	NP_000417.2:p.Thr2895Ser
NM_001079823.1:c.8671A>T	NP_001073291.1:p.Thr2891Ser
NM_001079823.2:c.8671A>T	NP_001073291.2:p.Thr2891Ser
ENST00000421865.2:c.8683A>T	ENSP00000400365.2:p.Thr2895Ser
ENST00000494137.2:c.748A>T	ENSP00000510626.1:p.Thr250Ser
ENST00000498257.6:c.748A>T	ENSP00000510533.1:p.Thr250Ser
ENST00000617695.4:c.8671A>T	ENSP00000481744.1:p.Thr2891Ser
ENST00000617695.5:c.8671A>T	ENSP00000481744.2:p.Thr2891Ser
ENST00000618192.4:c.8680A>T	ENSP00000480802.1:p.Thr2894Ser
ENST00000618192.5:c.8947A>T	ENSP00000480802.2:p.Thr2983Ser
ENST00000688198.1:n.1661A>T
ENST00000688799.1:c.748A>T	ENSP00000508458.1:p.Thr250Ser
ENST00000690858.1:n.1677A>T
ENST00000693461.1:n.1020A>T
XM_005266981.2:c.8947A>T	XP_005267038.1:p.Thr2983Ser
XM_005266981.3:c.8947A>T	XP_005267038.1:p.Thr2983Ser
XM_005266982.2:c.8935A>T	XP_005267039.1:p.Thr2979Ser
XM_005266982.3:c.8935A>T	XP_005267039.1:p.Thr2979Ser
XM_011535820.1:c.8941A>T	XP_011534122.1:p.Thr2981Ser
XM_011535820.2:c.8941A>T	XP_011534122.1:p.Thr2981Ser
XM_017010851.2:c.8953A>T	XP_016866340.1:p.Thr2985Ser
XM_017010852.1:c.7078A>T	XP_016866341.1:p.Thr2360Ser
XR_001743859.1:n.3901-2544T>A
XR_001743860.1:n.1180-2544T>A
XR_001743861.1:n.1347-2544T>A
XR_001743863.1:n.883-2544T>A
XR_002956395.1:n.9132-2544T>A
XR_002956396.1:n.3127-2544T>A
XR_942984.1:n.1461-2544T>A
XR_942985.1:n.1325-2544T>A