Canonical Allele Identifier: CA3992232

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129049919T>C , CM000668.2:g.129049919T>C	GRCh38
NC_000006.11:g.129371064T>C , CM000668.1:g.129371064T>C	GRCh37
NC_000006.10:g.129412757T>C	NCBI36
NG_008678.1:g.171779T>C , LRG_409:g.171779T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.114T>C MANE Select	NP_000417.3:p.Gly38=
ENST00000421865.3:c.114T>C MANE Select	ENSP00000400365.2:p.Gly38=
NM_000426.3:c.114T>C , LRG_409t1:c.114T>C	NP_000417.2:p.Gly38=
NM_001079823.1:c.114T>C	NP_001073291.1:p.Gly38=
NM_001079823.2:c.114T>C	NP_001073291.2:p.Gly38=
ENST00000421865.2:c.114T>C	ENSP00000400365.2:p.Gly38=
ENST00000466230.1:n.226T>C
ENST00000466230.2:c.345T>C	ENSP00000509691.1:n.345T>C
ENST00000617695.4:c.114T>C	ENSP00000481744.1:p.Gly38=
ENST00000617695.5:c.114T>C	ENSP00000481744.2:p.Gly38=
ENST00000618192.4:c.114T>C	ENSP00000480802.1:p.Gly38=
ENST00000618192.5:c.114T>C	ENSP00000480802.2:p.Gly38=
ENST00000686577.1:n.180T>C
ENST00000686599.1:n.219T>C
ENST00000689044.1:n.4T>C
XM_005266981.2:c.114T>C	XP_005267038.1:p.Gly38=
XM_005266981.3:c.114T>C	XP_005267038.1:p.Gly38=
XM_005266982.2:c.114T>C	XP_005267039.1:p.Gly38=
XM_005266982.3:c.114T>C	XP_005267039.1:p.Gly38=
XM_011535820.1:c.114T>C	XP_011534122.1:p.Gly38=
XM_011535820.2:c.114T>C	XP_011534122.1:p.Gly38=
XM_017010851.2:c.120T>C	XP_016866340.1:p.Gly40=
XM_017010853.1:c.114T>C	XP_016866342.1:p.Gly38=