Canonical Allele Identifier: CA365628285

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 520428
• ClinVar RCV Id: RCV000624570
• dbSNP Id: rs1554305929
• gnomAD v4: 6-129481390-G-C
• MyVariant Identifiers: chr6:g.129802535G>C (hg19) ; chr6:g.129481390G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129481390G>C , CM000668.2:g.129481390G>C	GRCh38
NC_000006.11:g.129802535G>C , CM000668.1:g.129802535G>C	GRCh37
NC_000006.10:g.129844228G>C	NCBI36
NG_008678.1:g.603250G>C , LRG_409:g.603250G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7688G>C	ENSP00000481744.2:p.Ser2563Thr
ENST00000618192.5:c.7964G>C	ENSP00000480802.2:p.Ser2655Thr
ENST00000421865.3:c.7700G>C MANE Select	ENSP00000400365.2:p.Ser2567Thr
ENST00000421865.2:c.7700G>C	ENSP00000400365.2:p.Ser2567Thr
ENST00000617695.4:c.7688G>C	ENSP00000481744.1:p.Ser2563Thr
ENST00000618192.4:c.7697G>C	ENSP00000480802.1:p.Ser2566Thr
NM_000426.3:c.7700G>C , LRG_409t1:c.7700G>C	NP_000417.2:p.Ser2567Thr
NM_001079823.1:c.7688G>C	NP_001073291.1:p.Ser2563Thr
XM_005266981.2:c.7964G>C	XP_005267038.1:p.Ser2655Thr
XM_005266982.2:c.7952G>C	XP_005267039.1:p.Ser2651Thr
XM_011535820.1:c.7958G>C	XP_011534122.1:p.Ser2653Thr
XM_005266981.3:c.7964G>C	XP_005267038.1:p.Ser2655Thr
XM_005266982.3:c.7952G>C	XP_005267039.1:p.Ser2651Thr
XM_011535820.2:c.7958G>C	XP_011534122.1:p.Ser2653Thr
XM_017010851.2:c.7970G>C	XP_016866340.1:p.Ser2657Thr
XM_017010852.1:c.6095G>C	XP_016866341.1:p.Ser2032Thr
NM_000426.4:c.7700G>C MANE Select	NP_000417.3:p.Ser2567Thr
NM_001079823.2:c.7688G>C	NP_001073291.2:p.Ser2563Thr