Canonical Allele Identifier: CA451926418

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1114676
• ClinVar RCV Id: RCV001442453
• dbSNP Id: rs2114809831
• MyVariant Identifiers: chr6:g.129786325C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465180C>T , CM000668.2:g.129465180C>T	GRCh38
NC_000006.11:g.129786325C>T , CM000668.1:g.129786325C>T	GRCh37
NC_000006.10:g.129828018C>T	NCBI36
NG_008678.1:g.587040C>T , LRG_409:g.587040C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.7191C>T	ENSP00000481744.2:p.His2397=
ENST00000618192.5:c.7455C>T	ENSP00000480802.2:p.His2485=
ENST00000684985.1:n.822C>T
ENST00000688150.1:n.530C>T
ENST00000421865.3:c.7191C>T MANE Select	ENSP00000400365.2:p.His2397=
ENST00000421865.2:c.7191C>T	ENSP00000400365.2:p.His2397=
ENST00000617695.4:c.7191C>T	ENSP00000481744.1:p.His2397=
ENST00000618192.4:c.7188C>T	ENSP00000480802.1:p.His2396=
NM_000426.3:c.7191C>T , LRG_409t1:c.7191C>T	NP_000417.2:p.His2397=
NM_001079823.1:c.7191C>T	NP_001073291.1:p.His2397=
XM_005266981.2:c.7455C>T	XP_005267038.1:p.His2485=
XM_005266982.2:c.7455C>T	XP_005267039.1:p.His2485=
XM_011535820.1:c.7449C>T	XP_011534122.1:p.His2483=
XM_005266981.3:c.7455C>T	XP_005267038.1:p.His2485=
XM_005266982.3:c.7455C>T	XP_005267039.1:p.His2485=
XM_011535820.2:c.7449C>T	XP_011534122.1:p.His2483=
XM_017010851.2:c.7461C>T	XP_016866340.1:p.His2487=
XM_017010852.1:c.5586C>T	XP_016866341.1:p.His1862=
NM_000426.4:c.7191C>T MANE Select	NP_000417.3:p.His2397=
NM_001079823.2:c.7191C>T	NP_001073291.2:p.His2397=