Canonical Allele Identifier: CA220783

Gene: LAMA2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129453109T>C , CM000668.2:g.129453109T>C	GRCh38
NC_000006.11:g.129774254T>C , CM000668.1:g.129774254T>C	GRCh37
NC_000006.10:g.129815947T>C	NCBI36
NG_008678.1:g.574969T>C , LRG_409:g.574969T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.6551T>C	ENSP00000481744.2:p.Phe2184Ser
ENST00000618192.5:c.6815T>C	ENSP00000480802.2:p.Phe2272Ser
ENST00000684985.1:n.182T>C
ENST00000421865.3:c.6551T>C MANE Select	ENSP00000400365.2:p.Phe2184Ser
ENST00000421865.2:c.6551T>C	ENSP00000400365.2:p.Phe2184Ser
ENST00000617695.4:c.6551T>C	ENSP00000481744.1:p.Phe2184Ser
ENST00000618192.4:c.6548T>C	ENSP00000480802.1:p.Phe2183Ser
NM_000426.3:c.6551T>C , LRG_409t1:c.6551T>C	NP_000417.2:p.Phe2184Ser
NM_001079823.1:c.6551T>C	NP_001073291.1:p.Phe2184Ser
XM_005266981.2:c.6815T>C	XP_005267038.1:p.Phe2272Ser
XM_005266982.2:c.6815T>C	XP_005267039.1:p.Phe2272Ser
XM_011535820.1:c.6809T>C	XP_011534122.1:p.Phe2270Ser
XM_005266981.3:c.6815T>C	XP_005267038.1:p.Phe2272Ser
XM_005266982.3:c.6815T>C	XP_005267039.1:p.Phe2272Ser
XM_011535820.2:c.6809T>C	XP_011534122.1:p.Phe2270Ser
XM_017010851.2:c.6821T>C	XP_016866340.1:p.Phe2274Ser
XM_017010852.1:c.4946T>C	XP_016866341.1:p.Phe1649Ser
NM_000426.4:c.6551T>C MANE Select	NP_000417.3:p.Phe2184Ser
NM_001079823.2:c.6551T>C	NP_001073291.2:p.Phe2184Ser