Canonical Allele Identifier: CA146925636

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129507548T>C , CM000668.2:g.129507548T>C	GRCh38
NC_000006.11:g.129828693T>C , CM000668.1:g.129828693T>C	GRCh37
NC_000006.10:g.129870386T>C	NCBI36
NG_008678.1:g.629408T>C , LRG_409:g.629408T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8763T>C MANE Select	NP_000417.3:p.Asp2921=
ENST00000421865.3:c.8763T>C MANE Select	ENSP00000400365.2:p.Asp2921=
NM_000426.3:c.8763T>C , LRG_409t1:c.8763T>C	NP_000417.2:p.Asp2921=
NM_001079823.1:c.8751T>C	NP_001073291.1:p.Asp2917=
NM_001079823.2:c.8751T>C	NP_001073291.2:p.Asp2917=
ENST00000421865.2:c.8763T>C	ENSP00000400365.2:p.Asp2921=
ENST00000494137.2:c.828T>C	ENSP00000510626.1:p.Asp276=
ENST00000498257.6:c.828T>C	ENSP00000510533.1:p.Asp276=
ENST00000617695.4:c.8751T>C	ENSP00000481744.1:p.Asp2917=
ENST00000617695.5:c.8751T>C	ENSP00000481744.2:p.Asp2917=
ENST00000618192.4:c.8760T>C	ENSP00000480802.1:p.Asp2920=
ENST00000618192.5:c.9027T>C	ENSP00000480802.2:p.Asp3009=
ENST00000688198.1:n.1741T>C
ENST00000688799.1:c.828T>C	ENSP00000508458.1:p.Asp276=
ENST00000690858.1:n.1757T>C
ENST00000693461.1:n.1100T>C
XM_005266981.2:c.9027T>C	XP_005267038.1:p.Asp3009=
XM_005266981.3:c.9027T>C	XP_005267038.1:p.Asp3009=
XM_005266982.2:c.9015T>C	XP_005267039.1:p.Asp3005=
XM_005266982.3:c.9015T>C	XP_005267039.1:p.Asp3005=
XM_011535820.1:c.9021T>C	XP_011534122.1:p.Asp3007=
XM_011535820.2:c.9021T>C	XP_011534122.1:p.Asp3007=
XM_017010851.2:c.9033T>C	XP_016866340.1:p.Asp3011=
XM_017010852.1:c.7158T>C	XP_016866341.1:p.Asp2386=
XR_001743859.1:n.3901-4757A>G
XR_001743860.1:n.1180-4757A>G
XR_001743861.1:n.1347-4757A>G
XR_001743863.1:n.883-4757A>G
XR_002956395.1:n.9132-4757A>G
XR_002956396.1:n.3127-4757A>G
XR_942984.1:n.1461-4757A>G
XR_942985.1:n.1325-4757A>G