Canonical Allele Identifier: CA341325

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 14301
• ClinVar RCV Id: RCV000015371 ; RCV001091209 ; RCV000824626
• dbSNP Id: rs121913577
• ExAC: 6:129618874 C / A
• gnomAD v2: 6-129618874-C-A
• gnomAD v4: 6-129297729-C-A
• MyVariant Identifiers: chr6:g.129618874C>A (hg19) ; chr6:g.129297729C>A (hg38)
• PubMed: PMID:9541105 ; PMID:16216942 ; PMID:22675738

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129297729C>A , CM000668.2:g.129297729C>A	GRCh38
NC_000006.11:g.129618874C>A , CM000668.1:g.129618874C>A	GRCh37
NC_000006.10:g.129660567C>A	NCBI36
NG_008678.1:g.419589C>A , LRG_409:g.419589C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.2901C>A	ENSP00000481744.2:p.Cys967Ter
ENST00000618192.5:c.3165C>A	ENSP00000480802.2:p.Cys1055Ter
ENST00000421865.3:c.2901C>A MANE Select	ENSP00000400365.2:p.Cys967Ter
ENST00000645154.1:c.416C>A
ENST00000421865.2:c.2901C>A	ENSP00000400365.2:p.Cys967Ter
ENST00000617695.4:c.2901C>A	ENSP00000481744.1:p.Cys967Ter
ENST00000618192.4:c.2901C>A	ENSP00000480802.1:p.Cys967Ter
NM_000426.3:c.2901C>A , LRG_409t1:c.2901C>A	NP_000417.2:p.Cys967Ter
NM_001079823.1:c.2901C>A	NP_001073291.1:p.Cys967Ter
XM_005266981.2:c.3165C>A	XP_005267038.1:p.Cys1055Ter
XM_005266982.2:c.3165C>A	XP_005267039.1:p.Cys1055Ter
XM_011535820.1:c.3165C>A	XP_011534122.1:p.Cys1055Ter
XM_005266981.3:c.3165C>A	XP_005267038.1:p.Cys1055Ter
XM_005266982.3:c.3165C>A	XP_005267039.1:p.Cys1055Ter
XM_011535820.2:c.3165C>A	XP_011534122.1:p.Cys1055Ter
XM_017010851.2:c.3171C>A	XP_016866340.1:p.Cys1057Ter
XM_017010852.1:c.1296C>A	XP_016866341.1:p.Cys432Ter
XM_017010853.1:c.3165C>A	XP_016866342.1:p.Cys1055Ter
NM_000426.4:c.2901C>A MANE Select	NP_000417.3:p.Cys967Ter
NM_001079823.2:c.2901C>A	NP_001073291.2:p.Cys967Ter