Canonical Allele Identifier: CA246937

Gene: LAMA2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129514601T>C , CM000668.2:g.129514601T>C	GRCh38
NC_000006.11:g.129835746T>C , CM000668.1:g.129835746T>C	GRCh37
NC_000006.10:g.129877439T>C	NCBI36
NG_008678.1:g.636461T>C , LRG_409:g.636461T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.1276+6T>C	ENSP00000510626.1:n.1276+6T>C
ENST00000498257.6:c.1276+6T>C	ENSP00000510533.1:n.1276+6T>C
ENST00000617695.5:c.9199+6T>C	ENSP00000481744.2:n.9199+6T>C
ENST00000618192.5:c.9475+6T>C	ENSP00000480802.2:n.9475+6T>C
ENST00000688198.1:n.2189+6T>C
ENST00000688799.1:c.1276+6T>C	ENSP00000508458.1:n.1276+6T>C
ENST00000690858.1:n.4084+6T>C
ENST00000693461.1:n.1548+6T>C
ENST00000421865.3:c.9211+6T>C MANE Select	ENSP00000400365.2:n.9211+6T>C
ENST00000421865.2:c.9211+6T>C	ENSP00000400365.2:n.9211+6T>C
ENST00000617695.4:c.9199+6T>C	ENSP00000481744.1:n.9199+6T>C
ENST00000618192.4:c.9208+6T>C	ENSP00000480802.1:n.9208+6T>C
NM_000426.3:c.9211+6T>C , LRG_409t1:c.9211+6T>C	NP_000417.2:n.9211+6T>C
NM_001079823.1:c.9199+6T>C	NP_001073291.1:n.9199+6T>C
XM_005266981.2:c.9475+6T>C	XP_005267038.1:n.9475+6T>C
XM_005266982.2:c.9463+6T>C	XP_005267039.1:n.9463+6T>C
XM_011535820.1:c.9469+6T>C	XP_011534122.1:n.9469+6T>C
XR_942984.1:n.1460+7876A>G
XR_942985.1:n.1324+7876A>G
XM_005266981.3:c.9475+6T>C	XP_005267038.1:n.9475+6T>C
XM_005266982.3:c.9463+6T>C	XP_005267039.1:n.9463+6T>C
XM_011535820.2:c.9469+6T>C	XP_011534122.1:n.9469+6T>C
XM_017010851.2:c.9481+6T>C	XP_016866340.1:n.9481+6T>C
XM_017010852.1:c.7606+6T>C	XP_016866341.1:n.7606+6T>C
XR_001743859.1:n.3900+7876A>G
XR_001743860.1:n.1179+7876A>G
XR_001743861.1:n.1346+7876A>G
XR_001743863.1:n.883-11810A>G
XR_002956395.1:n.9131+7876A>G
XR_002956396.1:n.3126+7876A>G
NM_000426.4:c.9211+6T>C MANE Select	NP_000417.3:n.9211+6T>C
NM_001079823.2:c.9199+6T>C	NP_001073291.2:n.9199+6T>C