Canonical Allele Identifier: CA451936321

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129514555A>C , CM000668.2:g.129514555A>C	GRCh38
NC_000006.11:g.129835700A>C , CM000668.1:g.129835700A>C	GRCh37
NC_000006.10:g.129877393A>C	NCBI36
NG_008678.1:g.636415A>C , LRG_409:g.636415A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.9171A>C MANE Select	NP_000417.3:p.Ser3057=
ENST00000421865.3:c.9171A>C MANE Select	ENSP00000400365.2:p.Ser3057=
NM_000426.3:c.9171A>C , LRG_409t1:c.9171A>C	NP_000417.2:p.Ser3057=
NM_001079823.1:c.9159A>C	NP_001073291.1:p.Ser3053=
NM_001079823.2:c.9159A>C	NP_001073291.2:p.Ser3053=
ENST00000421865.2:c.9171A>C	ENSP00000400365.2:p.Ser3057=
ENST00000494137.2:c.1236A>C	ENSP00000510626.1:p.Ser412=
ENST00000498257.6:c.1236A>C	ENSP00000510533.1:p.Ser412=
ENST00000617695.4:c.9159A>C	ENSP00000481744.1:p.Ser3053=
ENST00000617695.5:c.9159A>C	ENSP00000481744.2:p.Ser3053=
ENST00000618192.4:c.9168A>C	ENSP00000480802.1:p.Ser3056=
ENST00000618192.5:c.9435A>C	ENSP00000480802.2:p.Ser3145=
ENST00000688198.1:n.2149A>C
ENST00000688799.1:c.1236A>C	ENSP00000508458.1:p.Ser412=
ENST00000690858.1:n.4044A>C
ENST00000693461.1:n.1508A>C
XM_005266981.2:c.9435A>C	XP_005267038.1:p.Ser3145=
XM_005266981.3:c.9435A>C	XP_005267038.1:p.Ser3145=
XM_005266982.2:c.9423A>C	XP_005267039.1:p.Ser3141=
XM_005266982.3:c.9423A>C	XP_005267039.1:p.Ser3141=
XM_011535820.1:c.9429A>C	XP_011534122.1:p.Ser3143=
XM_011535820.2:c.9429A>C	XP_011534122.1:p.Ser3143=
XM_017010851.2:c.9441A>C	XP_016866340.1:p.Ser3147=
XM_017010852.1:c.7566A>C	XP_016866341.1:p.Ser2522=
XR_001743859.1:n.3900+7922T>G
XR_001743860.1:n.1179+7922T>G
XR_001743861.1:n.1346+7922T>G
XR_001743863.1:n.883-11764T>G
XR_002956395.1:n.9131+7922T>G
XR_002956396.1:n.3126+7922T>G
XR_942984.1:n.1460+7922T>G
XR_942985.1:n.1324+7922T>G