Canonical Allele Identifier: CA365628251

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1401419
• ClinVar RCV Id: RCV001911800
• dbSNP Id: rs2114839622
• MyVariant Identifiers: chr6:g.129802529T>C (hg19) ; chr6:g.129481384T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129481384T>C , CM000668.2:g.129481384T>C	GRCh38
NC_000006.11:g.129802529T>C , CM000668.1:g.129802529T>C	GRCh37
NC_000006.10:g.129844222T>C	NCBI36
NG_008678.1:g.603244T>C , LRG_409:g.603244T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7682T>C	ENSP00000481744.2:p.Leu2561Ser
ENST00000618192.5:c.7958T>C	ENSP00000480802.2:p.Leu2653Ser
ENST00000421865.3:c.7694T>C MANE Select	ENSP00000400365.2:p.Leu2565Ser
ENST00000421865.2:c.7694T>C	ENSP00000400365.2:p.Leu2565Ser
ENST00000617695.4:c.7682T>C	ENSP00000481744.1:p.Leu2561Ser
ENST00000618192.4:c.7691T>C	ENSP00000480802.1:p.Leu2564Ser
NM_000426.3:c.7694T>C , LRG_409t1:c.7694T>C	NP_000417.2:p.Leu2565Ser
NM_001079823.1:c.7682T>C	NP_001073291.1:p.Leu2561Ser
XM_005266981.2:c.7958T>C	XP_005267038.1:p.Leu2653Ser
XM_005266982.2:c.7946T>C	XP_005267039.1:p.Leu2649Ser
XM_011535820.1:c.7952T>C	XP_011534122.1:p.Leu2651Ser
XM_005266981.3:c.7958T>C	XP_005267038.1:p.Leu2653Ser
XM_005266982.3:c.7946T>C	XP_005267039.1:p.Leu2649Ser
XM_011535820.2:c.7952T>C	XP_011534122.1:p.Leu2651Ser
XM_017010851.2:c.7964T>C	XP_016866340.1:p.Leu2655Ser
XM_017010852.1:c.6089T>C	XP_016866341.1:p.Leu2030Ser
NM_000426.4:c.7694T>C MANE Select	NP_000417.3:p.Leu2565Ser
NM_001079823.2:c.7682T>C	NP_001073291.2:p.Leu2561Ser