Canonical Allele Identifier: CA365622168

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 2193399
• ClinVar RCV Id: RCV002607967
• dbSNP Id: rs1783483545
• MyVariant Identifiers: chr6:g.129786414T>C (hg19) ; chr6:g.129465269T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465269T>C , CM000668.2:g.129465269T>C	GRCh38
NC_000006.11:g.129786414T>C , CM000668.1:g.129786414T>C	GRCh37
NC_000006.10:g.129828107T>C	NCBI36
NG_008678.1:g.587129T>C , LRG_409:g.587129T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7280T>C	ENSP00000481744.2:p.Leu2427Pro
ENST00000618192.5:c.7544T>C	ENSP00000480802.2:p.Leu2515Pro
ENST00000684985.1:n.911T>C
ENST00000421865.3:c.7280T>C MANE Select	ENSP00000400365.2:p.Leu2427Pro
ENST00000421865.2:c.7280T>C	ENSP00000400365.2:p.Leu2427Pro
ENST00000617695.4:c.7280T>C	ENSP00000481744.1:p.Leu2427Pro
ENST00000618192.4:c.7277T>C	ENSP00000480802.1:p.Leu2426Pro
NM_000426.3:c.7280T>C , LRG_409t1:c.7280T>C	NP_000417.2:p.Leu2427Pro
NM_001079823.1:c.7280T>C	NP_001073291.1:p.Leu2427Pro
XM_005266981.2:c.7544T>C	XP_005267038.1:p.Leu2515Pro
XM_005266982.2:c.7544T>C	XP_005267039.1:p.Leu2515Pro
XM_011535820.1:c.7538T>C	XP_011534122.1:p.Leu2513Pro
XM_005266981.3:c.7544T>C	XP_005267038.1:p.Leu2515Pro
XM_005266982.3:c.7544T>C	XP_005267039.1:p.Leu2515Pro
XM_011535820.2:c.7538T>C	XP_011534122.1:p.Leu2513Pro
XM_017010851.2:c.7550T>C	XP_016866340.1:p.Leu2517Pro
XM_017010852.1:c.5675T>C	XP_016866341.1:p.Leu1892Pro
NM_000426.4:c.7280T>C MANE Select	NP_000417.3:p.Leu2427Pro
NM_001079823.2:c.7280T>C	NP_001073291.2:p.Leu2427Pro