Canonical Allele Identifier: CA10588408

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 265332
• ClinVar RCV Id: RCV000255697 ; RCV000654727 ; RCV001251149
• dbSNP Id: rs886039482
• gnomAD v4: 6-129453044-CA-C
• MyVariant Identifiers: chr6:g.129774191del (hg19) ; chr6:g.129453046del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129453046del , CM000668.2:g.129453046del	GRCh38
NC_000006.11:g.129774191del , CM000668.1:g.129774191del	GRCh37
NC_000006.10:g.129815884del	NCBI36
NG_008678.1:g.574906del , LRG_409:g.574906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.6488del	ENSP00000481744.2:p.Lys2163ArgfsTer12
ENST00000618192.5:c.6752del	ENSP00000480802.2:p.Lys2251ArgfsTer12
ENST00000684985.1:n.119del
ENST00000421865.3:c.6488del MANE Select	ENSP00000400365.2:p.Lys2163ArgfsTer12
ENST00000421865.2:c.6488del	ENSP00000400365.2:p.Lys2163ArgfsTer12
ENST00000617695.4:c.6488del	ENSP00000481744.1:p.Lys2163ArgfsTer12
ENST00000618192.4:c.6485del	ENSP00000480802.1:p.Lys2162ArgfsTer12
NM_000426.3:c.6488del , LRG_409t1:c.6488del	NP_000417.2:p.Lys2163ArgfsTer12
NM_001079823.1:c.6488del	NP_001073291.1:p.Lys2163ArgfsTer12
XM_005266981.2:c.6752del	XP_005267038.1:p.Lys2251ArgfsTer12
XM_005266982.2:c.6752del	XP_005267039.1:p.Lys2251ArgfsTer12
XM_011535820.1:c.6746del	XP_011534122.1:p.Lys2249ArgfsTer12
XM_005266981.3:c.6752del	XP_005267038.1:p.Lys2251ArgfsTer12
XM_005266982.3:c.6752del	XP_005267039.1:p.Lys2251ArgfsTer12
XM_011535820.2:c.6746del	XP_011534122.1:p.Lys2249ArgfsTer12
XM_017010851.2:c.6758del	XP_016866340.1:p.Lys2253ArgfsTer12
XM_017010852.1:c.4883del	XP_016866341.1:p.Lys1628ArgfsTer12
NM_000426.4:c.6488del MANE Select	NP_000417.3:p.Lys2163ArgfsTer12
NM_001079823.2:c.6488del	NP_001073291.2:p.Lys2163ArgfsTer12