Canonical Allele Identifier: CA3993128

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1016436
• ClinVar RCV Id: RCV001315445
• dbSNP Id: rs763410003
• ExAC: 6:129618983 T / C
• gnomAD v2: 6-129618983-T-C
• gnomAD v4: 6-129297838-T-C
• MyVariant Identifiers: chr6:g.129618983T>C (hg19) ; chr6:g.129297838T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129297838T>C , CM000668.2:g.129297838T>C	GRCh38
NC_000006.11:g.129618983T>C , CM000668.1:g.129618983T>C	GRCh37
NC_000006.10:g.129660676T>C	NCBI36
NG_008678.1:g.419698T>C , LRG_409:g.419698T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3010T>C	ENSP00000481744.2:p.Phe1004Leu
ENST00000618192.5:c.3274T>C	ENSP00000480802.2:p.Phe1092Leu
ENST00000421865.3:c.3010T>C MANE Select	ENSP00000400365.2:p.Phe1004Leu
ENST00000645154.1:c.525T>C
ENST00000421865.2:c.3010T>C	ENSP00000400365.2:p.Phe1004Leu
ENST00000617695.4:c.3010T>C	ENSP00000481744.1:p.Phe1004Leu
ENST00000618192.4:c.3010T>C	ENSP00000480802.1:p.Phe1004Leu
NM_000426.3:c.3010T>C , LRG_409t1:c.3010T>C	NP_000417.2:p.Phe1004Leu
NM_001079823.1:c.3010T>C	NP_001073291.1:p.Phe1004Leu
XM_005266981.2:c.3274T>C	XP_005267038.1:p.Phe1092Leu
XM_005266982.2:c.3274T>C	XP_005267039.1:p.Phe1092Leu
XM_011535820.1:c.3274T>C	XP_011534122.1:p.Phe1092Leu
XM_005266981.3:c.3274T>C	XP_005267038.1:p.Phe1092Leu
XM_005266982.3:c.3274T>C	XP_005267039.1:p.Phe1092Leu
XM_011535820.2:c.3274T>C	XP_011534122.1:p.Phe1092Leu
XM_017010851.2:c.3280T>C	XP_016866340.1:p.Phe1094Leu
XM_017010852.1:c.1405T>C	XP_016866341.1:p.Phe469Leu
XM_017010853.1:c.3274T>C	XP_016866342.1:p.Phe1092Leu
NM_000426.4:c.3010T>C MANE Select	NP_000417.3:p.Phe1004Leu
NM_001079823.2:c.3010T>C	NP_001073291.2:p.Phe1004Leu